Diko : en:potassium sensitivity has been reported

en:potassium sensitivity has been reported

Catégories

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Informations lexicales

Langue:anglais

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umls:C1868629

Associations d'idées

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1000

en:wasting, especially temporal, neck, and facial muscles

•

en:centrally nucleated skeletal muscle fibers

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:mildly increased mtdna

•

en:myasthenias

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:symmetrical muscle wasting

•

en:reduced lower limb subcutaneous fat

•

en:decreased achr

•

en:dorsal and flexor muscles of the forearm are involved

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:emg shows fibrillations

•

en:immunoreactivity for z-disk proteins

•

en:nemaline bodies

•

en:progressive distal and proximal symmetric limb weakness

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:abnormal jitter

•

en:absence of immunostaining for alpha-dystroglycan (family a)

•

en:fasciculations (less common)

•

en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects

•

en:generalized muscle hypertrophy

•

en:myopathy

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

en:distal muscle atrophy due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:mitochondria dna deletion

•

en:muscle weakness (cvs+)

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:no myofibrillar abnormalities or protein aggregation

•

en:shoulder weakness

•

en:uterine muscle may be stiff during pregnancy

•

en:glycogen depletion in skeletal muscle

•

en:increased numbers of type 1 fibers

•

en:increased fibrosis

•

en:hypoplasia of cervical paravertebral muscles

•

en:clumsiness

•

en:decreased muscle bulk

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:congophilic amyloid material

•

en:reduced muscle bulk

•

en:myopathy, mild to severe

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:shoulder weakness and atrophy

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:trunk muscle atrophy

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:muscle weakness associated with fasting or infection

•

en:positive staining for atpase activity at ph of 4.3

•

en:emg shows myotonic changes

•

en:emg consistent with chronic neurogenic disorder

•

en:decreased numbers of achr

•

en:chronic weakness

•

en:adhalin deficiency seen on muscle biopsy

•

en:myalgia

•

en:decreased mitochondria

•

en:hypoplasia of serratus anterior muscle

•

en:hypotonia (families a and b)

•

en:inability to run

•

en:loss of independent ambulation around age 12 years

•

en:loss of subcutaneous fat, generalized

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:muscle biopsy shows grouped atrophy

•

en:atrophy, mild (in some cases)

•

en:myopathic changes early in disease seen on emg

•

en:necrosis

•

en:nemaline rods (in some patients)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:signs of denervation seen on biopsy

•

en:inguinal hernia

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness of limb

•

en:necrotic and regenerating muscle fibers

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

en:neck flexor weakness

•

en:muscle weakness, severe

•

en:accumulation of pas-positive polyglucosan material seen on muscle biopsy

•

en:muscle cramps (also seen in some heterozygotes)

•

en:increased internal nuclei (in some patients)

•

en:distal muscle weakness, occurs initially

•

en:attacks last 4 to 24 hours

•

en:decreased activities of complexes i, iii, and iv, variable

•

en:panniculitis

•

en:muscle fiber splitting (in some patients)

•

en:degenerative changes with increased connective tissue

•

en:muscle biopsy shows atrophic fibers

•

en:upper limb muscle hypoplasia

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle biopsy shows mild dystrophic changes

•

en:multiple mitochondrial dna deletions

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased fatty infiltration

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:fatty infiltration of affected muscles

•

en:facial edema

•

en:z-line streaming see on electron microscopy

•

en:fatty infiltration seen on muscle biopsy

•

en:proximal upper limb amyotrophy

•

en:skeletal muscle biopsy shows reducing bodies

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:myotonia seen on emg

•

en:attacks precipitated by cold temperature

•

en:muscle fatigability

•

en:neonatal hypertonias

•

en:proximal muscle weakness (85% of patients)

•

en:redundancy of basal lamina with accumulated debris

•

en:subcutaneous edema

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

en:distal muscle weakness, affecting the lower limbs

•

en:gait abnormality

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:muscular hypotonia of the trunk

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:relative sparing of the rectus femoris

•

en:cap structures, when present, contain disorganized myofibrils and thickened z bands

•

en:abnormal mitochondrial morphology

•

en:denervation seen on emg

•

en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers

•

en:distal muscle atrophy of the lower limbs secondary to peripheral neuropathy

•

en:myopathy, nonprogressive

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle cramps, painful, recurrent

•

en:shortening of the fascial structures of the palm and fingers

•

en:muscle biopsy shows dystrophic changes

•

en:fatigue

•

en:electromyography shows myotonic discharges

•

en:infantile muscular hypotonia

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en:fiber necrosis

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en:generalized muscle weakness, proximal and distal

•

en:lipid droplet accumulation

•

en:facial muscle atrophy of involved side

•

en:muscle fibers may contain abnormal polysaccharide

•

en:generalized muscle wasting

•

en:giant granules in muscle cells

•

en:minicores or core-like regions may be present

•

en:muscle biopsy shows abnormal mitochondria

•

en:non-pitting edema

•

en:wrist swelling

•

en:muscle weakness usually does not occur

•

en:pelvic muscle involvement occurs later

•

en:pelvic girdle weakness

•

en:painful muscle cramps

•

en:no ragged-red fibers

•

en:normal or increased abdominal adipose tissue

•

en:nemaline rods may be observed

•

en:necrotic muscle fibers

•

en:poor muscle mass

•

en:myofibrillar myopathy

•

en:muscle biopsy shows fiber type variation (in some patients)

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, proximal and distal

•

en:muscle wasting in lower limbs

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows dystrophic features

•

en:muscle atrophy, progressive

•

en:muscles have a woody consistency on palpation

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:multi-core congenital myopathy

•

en:preserved heel standing

•

en:soft tissue or tendinous calcinosis may occur

•

en:prolonged endplate currents

•

en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal axons with sprouting and swelling

•

en:weakness of neck muscles may occur later

•

en:weakness of long finger extensor muscles (occurs later)

•

en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs

•

en:umbilical depression

•

en:type 2 muscle fiber predominance

•

en:type 2 fiber predominance

•

en:type 1 muscle fiber predominance

•

en:toe-walking gait

•

en:proximal muscle weakness, less severe

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:spasm

•

en:lymphedema of the lower limbs (swelling is confined to below the knees)

•

en:skeletal myopathy

•

en:skeletal muscle may show less severe mtdna deletion

•

en:secondary loss of sarcolemmal caveolin-3

•

en:rare necrotic fibers

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:quadriceps aplasia

•

en:proximal muscle weakness (120270.0002)

•

en:proximal muscle weakness, mild

•

en:mri shows fatty infiltration of affected muscles

•

en:hypotonia (1 patient)

•

en:lower and upper limbs affected

•

en:calf muscle discomfort

•

en:difficulty rising from chair

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased muscle mass, especially distally

•

en:decreased muscle density on imaging

•

en:decreased endplate potential and amplitudes

•

en:decreased activity of mitochondrial complexes i and iv

•

en:decreased activities of complexes i and iv

•

en:cervical muscle weakness

•

en:centralized nuclei, rare

•

en:calf muscle pseudohypertrophy

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:atrophy of type i fibers

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en:atrophy, neurogenic muscular

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:affected muscles show atrophy

•

en:absence of muscle pseudohypertrophy

•

en:abnormal subcutaneous fat tissue distribution

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal fat distribution

•

en:aggregates contain granular electron-dense material

•

en:difficulty walking and climbing stairs

•

en:distal muscle weakness due to peripheral neuropathy of upper and lower limbs

•

en:loss of facial adipose tissue

•

en:glycogen accumulation seen on biopsy

•

en:lipoatrophy of trunk

•

en:large lipid droplets

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

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en:intracellular granular osmiophilic deposits

•

en:increased fatty and connective tissue in skeletal muscle

•

en:increased fatigability

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, mild

•

en:hypotonia, generalized (in some patients)

•

en:generalized weakness (adult-onset)

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:fibrillations in affected muscles

•

en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy

•

en:familial generalized lipodystrophy

•

en:exertional leg pain

•

en:exercise intolerance (cvs+)

•

en:exercise-induced muscle fatigue

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:edematous hands and feet (1 patient)

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:distal muscle weakness and atrophy

•

en:amyotrophy, distal, upper and lower limbs

•

en:muscular fasciculation

•

en:pectoralis hypoplasia

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:no muscle fiber necrosis

•

en:nonspecific muscle fiber atrophy

•

en:nemaline rod formation

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myositis (in some patients)

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:myalgia with febrile episodes (rare)

•

en:muscular weakness, limb-girdle (patient a)

•

en:muscle weakness, severe, axial and proximal predominance

•

en:plantar fibromatosis

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:pelvic girdle weakness and atrophy

•

en:progressive loss of facial adipose tissue

•

en:mild muscular hypotonia

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:wide variation in fiber size

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:weakness of anterior compartment tibial muscles

•

en:variation of myofiber diameter

•

en:variability in fiber size

•

en:umbilical cord bleeding

•

en:amyotrophy of the lower limbs (in some patients)

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:soft fleshy palms (50%)

•

en:small rounded fibers

•

en:shoulder girdle muscle atrophy

•

en:proximal lower limb muscle weakness, later (in some patients)

•

en:shortening of various muscle-tendon groups in legs

•

en:severe muscle wasting and atrophy, primarily in the legs

•

en:severely decreased or absent lamp2 protein

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

•

en:ring fibers

•

en:rimmed vacuoles on biopsy

•

en:reduced muscle mass

•

en:reduced ankle dorsiflexion

•

en:proximal muscle weakness

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:distal muscle atrophy due to denervation

•

en:distal atrophy of the legs

•

en:difficulty walking, running, climbing stairs

•

en:difficulty walking

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:decreased exercise tolerance

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:calf muscle hypoplasia

•

en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:calf and thigh cramping muscle pains

•

en:broad-based gait

•

en:a subset of patients develop bilateral weakness

•

en:autophagic rimmed vacuoles

•

en:atrophy of the small muscles in the hands and feet

•

en:atrophy of shins

•

en:atrophic muscle fiber on biopsy

•

en:angular atrophic fibers

•

en:lower limb atrophy

•

en:anasarca

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:edema (hands and feet)

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:loss of subcutaneous fat, diffuse

•

en:exercise intolerance (less common)

•

en:loss of adipose tissue occurs around puberty

•

en:loss of lower-limb tendon reflexes

•

en:lipid accumulation in muscle tissue

•

en:limb weakness, proximal followed by distal

•

en:limb-girdle muscle weakness

•

en:interosseus muscles involved

•

en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

•

en:increased t-2 signal in muscles of lower extremities on mri (in some patients)

•

en:lipoma

•

en:increased muscle tone (early in life)

•

en:generalized amyoplasia

•

en:increased length of endplate regions seen on muscle biopsy

•

en:fasciculations (in some patients)

•

en:extensive fatty infiltration on biopsy

•

en:fatty deposition

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:gluteal hypoplasia

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:increased echo intensity in affected muscles

•

en:increased endomysial connective tissue around muscle fibers

•

en:patients achieve independent ambulation, but may lose it

•

en:nuclear clumps

•

en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

•

en:neuropathic process seen on muscle biopsy

•

en:neurogenic changes later in disease seen on emg

•

en:low maximum workload on exercise testing

•

en:nerve conduction studies normal

•

en:myopathy with abnormal lipid metabolism

•

en:muscle biopsy shows small rounded fibers

•

en:myopathy in approximately 45% of patients

•

en:muscular atrophy

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, distal, restricted to the lower limbs

•

en:muscle wasting (especially legs and arms)

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:muscle

•

en:minimal subcutaneous fat

•

en:minicores extend full fiber diameter

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:pectoralis major hypoplasia

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:biopsy shows dystrophic changes

•

en:loss of sarcomeric striations

•

en:attacks relieved by potassium administration

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic calf muscles

•

en:ankle edema (finding)

•

en:amyotrophy (1 patient)

•

en:variation of fiber size and shape

•

en:ubiquinone decreased

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:preserved junctional structure seen on muscle biopsy

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:shortened open achr channel duration

•

en:rimmed vacuoles with basophilic granular material

•

en:proximal and distal muscle atrophy

•

en:prominent muscular appearance

•

en:progression to wheelchair in fourth decade

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:distal lower limb muscle weakness and atrophy

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

en:calf muscle hypertrophy

•

en:degenerating mitochondria

•

en:decremental muscle response to repetitive nerve stimulation

•

en:decreased respiratory complex i+iii and ii+iii activity

•

en:decreased numbers of type 2b fibers

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:cores extend along length of muscle fiber

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:calf hypertrophy (reported in 1 family)

•

en:distal limb muscle weakness occurs later

•

en:biopsy shows myopathic and dystrophic changes

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:angular fibers (in some patients)

•

en:amyotrophy affects c5 to t1 myotomes

•

en:accelerated decay of the synaptic current

•

en:absence of collagen vi immunostaining

•

en:abnormal aggregation of mitochondria

•

en:abdominal wall muscle weakness (later onset)

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:deltoid muscle hypoplasia

•

en:distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

•

en:lack of facial subcutaneous fat

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:jitter

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:increased perisarcolemmal calcium deposition

•

en:increased intramuscular fat

•

en:increased fibrosis (in some patients)

•

en:increased central nucleation

•

en:impaired toe-walking

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:heterotopic bone formation in subcutaneous fat

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:hematoma

•

en:hand muscle atrophy

•

en:handgrip myotonia

•

en:grip strength decreased

•

en:foot-drop

•

en:floppy infant syndrome

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:edema, generalized

•

en:distal skeletal muscle atrophy (after long disease duration)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:global muscle weakness

•

en:complex v deficiency

•

en:muscular dystrophy (in some patients)

•

en:peripheral edema

•

en:paralysis of the lower limbs (later)

•

en:onset of weakness in hands and feet

•

en:normal sensation

•

en:normal phosphorylase kinase activity in muscle

•

en:normal or decreased facial and neck adipose tissue

•

en:neck and proximal limb muscle myopathy

•

en:myopathy (rare)

•

en:muscle weakness is not a feature

•

en:progressive proximal muscle involvement

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:muscle cramps during exercise

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:primarily affects lower limbs

•

en:proximal amyotrophy

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:shoulder muscle weakness

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:weakness

•

en:virtually no active movement at birth (wws)

•

en:variation in skeletal muscle fiber diameter

•

en:transient neonatal hypotonia (less common)

•

en:toe and foot dorsiflexor weakness

•

en:tendon tears

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:small nerve terminals

•

en:secondary myopathic changes

•

en:proximal limb muscle weakness initially

•

en:scapuloperoneal weakness

•

en:sarcoplasmic inclusions

•

en:sarcomere disappearance seen on muscle biopsy

•

en:rhabdomyolysis, episodic

•

en:reduced subcutaneous adipose tissue

•

en:recovery between attacks

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:pyruvate oxidation defect

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:superficial rerouting of lymph through the skin

•

en:muscle atrophy, primarily in the legs

•

en:distal limb muscle atrophy, lower more than upper

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:excessive neutral fat and free fatty acids in type-i fibers

•

en:emg shows reduction of voluntary recruitment

•

en:emg shows myopathic features

•

en:emg may show neurogenic changes

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:edema

•

en:distal muscle weakness, upper and lower limbs

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:denuded postsynaptic regions

•

en:filamentous inclusions in muscle fibers

•

en:degenerating junctional folds

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decremental response of compound muscle action potential on repetitive nerve stimulation

•

en:decreased muscle mass (in some patients)

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased distal reflexes

•

en:cranial muscles spared

•

en:cores or minicores

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:fiber type variation

•

en:decreased muscle bulk (in one patient)

•

en:focal loss of cross- striations

•

en:lipid droplets seen on muscle biopsy

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:generalized limb muscle atrophy

•

en:mitochondrial paracrystalline inclusion bodies

•

en:mild variability in muscle fiber size

•

en:lymphangitis, episodic

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:lower limb muscle atrophy (in 2 of 3 families)

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:lymphedema of the hands (in some patients)

•

en:leg cramps may occur with exercise

•

en:increased variability of fiber size seen on muscle biopsy

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:increased fatigue

•

en:imaging shows muscle atrophy and fatty replacement

•

en:glycogen deficiency in muscle fibers

•

en:hernia

•

en:hangrip myotonia

•

en:increased visceral fat

•

en:muscle pain (in some patients)

•

en:muscle hypertrophy (meb)

•

en:muscle weakness, predominantly proximal

•

en:muscle pain after exercise

•

en:muscle spasticity

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle cramp

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle atrophy appears later in disease course

•

en:mitochondrial dna depletion, severe

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:muscle weakness is predominantly of extremities and tongue

•

en:mildly decreased cytochrome c oxidase activity

•

en:loss of truncal subcutaneous adipose tissue

•

en:muscle weakness, variable

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:poor development of the postsynaptic membrane

•

en:rectus medial atrophy

•

en:limb-girdle muscle atrophy

•

en:proximal muscle weakness occurs later

•

en:progressive proximal muscle weakness

•

en:progressive muscle weakness

•

en:premature exertional muscle weakness

•

en:poor sarcomeric structure (in some patients)

•

en:pharyngeal muscle weakness

•

en:myopathic changes seen muscle biopsy

•

en:no muscle weakness

•

en:nemaline bodies are rarely intranuclear

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:myotonic discharges

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:myotonia

•

en:myopathy (in some patients)

•

en:limb hypertonia

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:decreased thiamine pyrophosphate

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:difficulty standing

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:degenerative features seen on muscle biopsy

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:decreased lipoic acid

•

en:dystrophic changes occur later

•

en:chronic denervation/reinnervation seen on emg

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:autophagosome

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:acute rhabdomyolysis

•

en:absence of necrosis

•

en:severe muscular hypotonia

•

en:distal muscle weakness, predominantly lower limbs

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:increased number of small endplates

•

en:generalized muscular appearance from birth

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:inclusion body myopathy

•

en:hypotonia (patients a and c)

•

en:hypotonia, severe (patient b)

•

en:hypotonia, severe, neonatal

•

en:hypotonia, neonatal and later

•

en:hypoglycosylation of alpha-dystroglycan

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:emg shows neurogenic changes

•

en:fiber-type variability

•

en:fat pad anterior to malleolus

•

en:facial muscle weakness and atrophy, progressive

•

en:extensor finger muscle weakness

•

en:exercise-induced myalgia

•

en:episodic weakness may or may not occur independent of myotonia

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows polyphasic continuous motor unit discharges

•

en:rimmed vacuoles

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:small or absent axon terminals

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:muscle pain and cramping on exertion

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows glycogen storage

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscles do not contract upon electrical stimulation

•

en:muscle weakness, severe, proximal and distal

•

en:motor clumsiness

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:lymphedema, dorsa of feet

•

en:lower limbs more affected than upper limbs

•

en:lipoatrophy

•

en:increased number of endplate regions distributed over increased span of muscle fiber

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:muscle stiffness (in older patients)

•

en:muscle weakness increases with age

•

en:impaired mitochondrial respiration

•

en:slim, muscular build (in some patients)

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:smooth muscle may also become involved

•

en:umbilical hernia

•

en:type 1 fiber predominance

•

en:truncal hypotonia (family a)

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:subcutaneous lipomatous tissue

•

en:skeletal muscle damage

•

en:myasthenic syndrome (hcs)

•

en:rigidity (uncommon)

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:prominent musculature

•

en:poor exercise tolerance

•

en:normal dystrophin immunostaining

•

en:necrosis and degeneration seen on muscle biopsy

•

en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

•

en:increased focal mitochondrial density

•

en:muscle weakness, distal, particularly affecting the hands

•

en:hypotrophy of the small hand muscles

•

en:walking may be limited

•

en:absence of spontaneous activity at birth (severe form)

•

en:abnormal muscle tone

•

en:abnormal irregular myofibrillar network

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:abnormal fat accumulation in the back (in some patients)

•

en:z-band streaming

•

en:winged scapula

•

en:velopharyngeal muscle weakness

•

en:axial muscle weakness

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

en:tubular aggregates in muscle fibers may occur

•

en:thigh hypertrophy

•

en:symptoms may be induced by heat

•

en:hypertonia in infancy

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:sparing of anterior tibialis muscle

•

en:amorphous granulofilamentous material associated with z-discs

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:by fourth decade, many patients need help with ambulation

•

en:disorganization of the myofibrillar pattern

•

en:hamstring muscle affected

•

en:generalized muscle weakness, severe

•

en:fragmented mitochondrial network

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle atrophy, affecting the lower limbs

•

en:hyperactive deep tendon reflexes

•

en:disruption of sarcomeres with disorganization of the z band

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased coenzyme q10 content

•

en:decreased caveolae in muscle tissue

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:centralized nuclei may be seen

•

en:myotonia is usually not seen

•

en:myofibroma (in 1 patient)

•

en:myalgia (in some patients)

•

en:muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness, proximal and distal (predominant lower limb involvement)

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:muscle weakness, mild, proximal and distal

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:muscle weakness, episodic

•

en:muscle rigidity

•

en:muscle hypertrophy may occur

•

en:muscle hypertonia

•

en:muscle fatigue

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with gomori trichrome

•

en:reduced muscle strength (in some patients)

•

en:percussion myotonias

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:reduced postsynaptic cleft area

•

en:swelling of the hands and feet (in 1 patient)

•

en:muscle atrophy later in the disease

•

en:angulated atrophic fibers

•

en:acetazolamide may worsen symptoms

•

en:absence of pectoralis minor muscle

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:type ii fiber predominance

•

en:tubular aggregates mainly in type 1 fibers

•

en:thin musculature

•

en:swelling of the extremities, episodic

•

en:rhabdomyolysis, episodic and recurrent

•

en:subsarcolemmal mitochondrial accumulation

•

en:small round skeletal muscle fibers

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:shortening of various muscle-tendon groups in feet

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:atrophic muscle fibers

•

en:marked variability of fiber size

•

en:decreased adipose tissue around neck

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:difficulty raising arms

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:degeneration of junctional folds

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma

•

en:decreased muscle mitochondrial aconitase

•

en:decreased activities of mitochondrial respiratory complexes i and iii seen on skeletal muscle biopsy

•

en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy

•

en:cytochrome c oxidase-negative fibers

•

en:biopsy muscle normal

•

en:biceps aplasia

•

en:attacks of weakness

•

en:areflexia of lower limbs

•

en:acquired partial lipodystrophy

•

en:absence of subcutaneous fat over entire body except buttocks, hips, and thighs

•

en:atrophy of type 1 and type 2 fibers

•

en:distal muscle atrophy of the upper limbs (in some patients)

•

en:distal muscle weakness due to peripheral neuropathy

•

en:lymphedema of the extremities

•

en:increased variation in fiber size (in some patients)

•

en:lymphedema of lower extremity

•

en:lymphangiectasia

•

en:lower limb muscle hypotrophy

•

en:lipohypoplasia, regional

•

en:lipoatrophic appearance

•

en:leg edema

•

en:internal nuclei seen on muscle biopsy

•

en:inflammatory cells absent

•

en:increased endomysial fibrosis

•

en:edema at birth

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:hypotonia at birth

•

en:hypotonia, axial, severe

•

en:hyporeflexia or areflexia

•

en:hypoplasia of the hand muscles (29%)

•

en:gowers sign (in some patients)

•

en:generalized amyotrophy

•

en:exercise intolerance (patient a)

•

en:asymmetric muscle involvement

•

en:muscle wasting due to chronic denervation

•

en:attacks may present during or after sleep

•

en:muscle hypertrophy of the lower extremities

•

en:pain or cramping during sustained manual activity

•

en:nonspecific myopathy seen on biopsy

•

en:nonspecific myopathic changes seen on biopsy

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:myofibril destruction (in some patients)

•

en:muscular stiffness

•

en:muscle weakness (type i)

•

en:muscle weakness, distal more than proximal

•

en:muscle fibers contain internal nuclei

•

en:prolonged rise and decay of miniature endplate potentials (mepp)

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:mri of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment

•

en:mitochondrial complex i deficiency

•

en:minimal muscle mass

•

en:minicores (in some)

•

en:mild muscle atrophy in forearm muscles

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:preserved junctional folds

•

en:proximal muscles may be mildly affected

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:tibialis anterior muscle affected

•

en:calf hypertrophy (uncommon)

•

en:z-disk streaming

•

en:z-disks with abnormal homogeneous material

•

en:wheelchair dependency in 20% of patients by age 40

•

en:weakness of neck extensors (rare)

•

en:variable fiber size

•

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:swelling of the affected areas

•

en:proximal muscle atrophy (in some patients)

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:some patients become wheelchair-dependent

•

en:soft tissue vascular malformations

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:reduced muscle tone

•

en:red-ragged fibers (2p21del)

•

en:ragged red fibers (in some patients)

•

en:ragged-red fibers on muscle biopsy

•

en:macroglossia

•

en:symptoms are progressive for a few years, and then become stationary

•

en:loss of gluteal adipose tissue

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:distal muscle atrophy (1 patient)

•

en:distal muscle atrophy, lower limbs more severely affected than upper limbs

•

en:distal lower limb amyotrophy

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty walking and climbing stairs (patient a)

•

en:difficulty running or inability to run

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:distal muscle weakness of the upper limbs (in some patients)

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased mitochondrial complex v activity

•

en:decreased activity of complexes ii+iii

•

en:cores contain densely packed myofilaments

•

en:congophilic deposits

•

en:central nuclei

•

en:limb lymphedema (in some patients)

•

en:calf muscle weakness

•

en:distal muscle weakness due to neuropathy

•

en:decreased activity of mitochondrial complex iii

•

en:electromyogram normal

•

en:generalized muscle contractions, episodic

•

en:intranuclear inclusions (1 family)

•

en:emg - repetitive muscle discharges

•

en:involves upper and lower proximal muscles

•

en:increased connective tissue and fat

•

en:hypotonia from birth to age 12

•

en:hypotonia (in some patients)

•

en:hypotonia (cvs+)

•

en:hypotonia, severe, persistent

•

en:hypotonia (untreated hypothyroidism)

•

en:endomysial fibrosis

•

en:fatty replacement

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:emg may showed myotonic discharges

•

en:exercise-induced muscle cramps

•

en:evidence of lymphatic rerouting

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:enlarged nuclei with central pallor

•

en:fat pad between achilles tendon and medial malleolus

•

en:shortening of flexor profundus muscle-tendon unit

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:upper and/or lower limbs may be affected

•

en:unable to walk

•

en:triceps weakness

•

en:tremor of the upper limb

•

en:some abnormal aggregation of mitochondria

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:stiffness (uncommon)

•

en:small endplate

•

en:shoulder muscle weakness (in some patients)

•

en:wasting of calf muscles (rare)

•

en:shoulder muscle hypoplasia

•

en:waddling gait

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:abnormal aggregates of desmin and filamin c

•

en:decreased mitochondrial respiratory chain complex activity

•

en:diastasis recti

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:decreased muscle mass in the thighs

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:absence of caveolin-3 staining

•

en:chronic denervation seen on emg

•

en:casq1-immunopositive inclusions

•

en:buffalo hump (rare)

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:rupture of tendon

•

en:myofibromatosis

•

en:reduced subcutaneous fatty tissue

•

en:muscle stiffness or aching

•

en:myofibrillar disorganization

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, mainly proximal

•

en:muscle wasting, progressive

•

en:muscle pain with exercise (in older patients)

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:muscle fiber immaturity

•

en:muscle cramps at rest

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:distal muscle wasting, mild

•

en:myopathic findings on biopsy have been occasionally reported

•

en:necrotic and regenerating fibers

•

en:reduced activity of mitochondrial respiratory chains (1 family)

•

en:prolonged miniature endplate currents

•

en:quadriceps atrophy (later onset)

•

en:pseudohypertrophy of muscle

•

en:proximal muscle weakness (in some patients)

•

en:proximal muscle involvement may occur

•

en:proximal muscles more often affected

•

en:proximal limb muscle weakness (occurs later)

•

en:presynaptic defect at the neuromuscular junction

•

en:necrotic changes (finding)

•

en:postexercise cmap amplitude facilitation

•

en:polyglucosan accumulation

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:normal neonatal period may occur before weakness is apparent

•

en:neonatal hypotonia

•

en:difficulty in toe walking

•

en:muscle biopsy shows variation in fiber size (family a)

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:neuropathic or myopathic changes seen on emg

•

en:muscle activity is electrically silent on emg

•

en:muscle biopsy may show inflammatory changes

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:muscle weakness (1 patient)

•

en:muscle weakness of the face and neck, mild to moderate

•

en:muscle weakness trunk

•

en:myalgia, episodic

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:myopathic changes on pathology

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myopathic features seen on emg

•

en:nemaline rods (rare)

•

en:peroneal muscle weakness

•

en:mtdna depletion seen on muscle biopsy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

oedème du visage

•

en:muscular rigidity

•

en:vacuolar myopathy

•

en:vacuolar degeneration

•

en:usually no myopathic changes on biopsy

•

en:upper limb weakness

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:plasma membrane discontinuities

•

en:tetany

•

en:sparing of small hand and finger muscles

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:repetitive response to single nerve stimulus

•

en:proximal and distal muscle atrophy in lower limbs

•

en:muscle aches, cramps

•

en:mri may show cervical spinal cord atrophy

•

en:distal myopathy (in 1 family)

•

en:endplate myopathy

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:gait unsteady

•

en:frontalis muscle weakness

•

en:fibrillation

•

en:facial paresis

•

en:eosinophilic inclusions

•

en:emg shows high-frequency spontaneous discharges

•

en:head drop due to neck muscle weakness

•

en:edema is present at birth and then slowly decreases

•

en:easy bruisability of lower extremities

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:dystrophic changes on biopsy

•

en:dystrophic changes may be present

•

en:dysarthria

•

en:gowers sign (patient a)

•

en:histochemically normal type-ii muscle fibers

•

en:minipolymyoclonus

•

en:increased connective tissue

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:many fibers with internal nuclei

•

en:lipid storage, mainly in type i fibers

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased internal nuclei

•

en:increased adipose fibrosis

•

en:hyaline inclusion

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hypotonia, profound

•

en:hypotonia, infantile, severe

•

en:hypotonia, generalized, severe

•

en:hypothenar muscle atrophy

•

en:hypoactive gag reflex

•

en:muscle biopsy shows neurogenic angulated fibers

◀

Génériques

[F] [H]

›

en:potassium

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118857 • caches: c1=26 c2=1103 c3=54

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