Diko : en:muscle biopsy shows decreased activity of cytochrome c oxidase

en:muscle biopsy shows decreased activity of cytochrome c oxidase

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Langue:anglais

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umls:C1858428

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1000

en:repetitive response to single nerve stimulus

•

en:preserved junctional structure seen on muscle biopsy

•

en:quadriceps atrophy

•

en:abnormal fat accumulation in axillae (in some patients)

•

en:decreased secondary clefts

•

en:exercise intolerance (cvs+)

•

en:muscle atrophy, upper and lower limbs

•

en:muscle strength and bulk is preserved

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:some abnormal aggregation of mitochondria

•

en:acetazolamide may worsen symptoms

•

en:degenerate mitochondrial on em

•

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

•

en:minicores or core-like regions may be present

•

en:muscle cramps at rest

•

en:muscular atrophy

•

en:muscle weakness, severe, axial and proximal predominance

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv in muscle tissue

•

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

•

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

•

en:gastrocnemius and soleus muscles most affected

•

en:limb weakness and atrophy

•

en:mildly decreased cytochrome c oxidase activity

•

en:muscles have a woody consistency on palpation

•

en:benign soft tissue developmental anomalies

•

en:progression to wheelchair in fourth decade

•

en:distal limb muscle weakness and atrophy

•

en:dystrophic changes on biopsy

•

en:fasciculations (in some patients)

•

en:hip girdle muscle atrophy

•

en:increased adipose fibrosis

•

en:increased length of endplate regions seen on muscle biopsy

•

en:relative muscle weakness, especially in pelvic girdle

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

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

•

en:muscle weakness, proximal, upper and lower limbs affected

•

en:muscle fatigability

•

en:muscle biopsy shows neurogenic atrophy

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:decreased activity of complex i and complex iv

•

en:emg shows myopathic or neurogenic changes

•

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

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activity of mitochondrial complexes i and iv

•

en:absence of some scapular muscles (less common)

•

en:skeletal muscle biopsy shows reducing bodies

•

en:reduced lower limb subcutaneous fat

•

en:progressive proximal muscle involvement

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:muscle hypertrophy (meb)

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

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

•

en:decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

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

•

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

•

en:muscle biopsy shows variation in fiber size

•

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

•

en:muscle biopsy shows abnormal mitochondria

•

en:mitochondrial complex i deficiency

•

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

•

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

•

en:onset of weakness in hands and feet

•

en:severe muscle hypotonia at birth

•

en:rhabdomyolysis with exercise (in older patients)

•

en:ragged-red fibers seen on muscle biopsy

•

en:tetanus-like muscle contractions

•

en:muscular stiffness

•

en:increased fibrosis

•

en:hamstring and quadriceps muscles mildly affected

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

en:subcutaneous lipomatous tissue

•

en:variation of fiber size and shape

•

en:leg cramps may occur with exercise

•

en:axial muscle weakness

•

en:thin filament shortening and disorganization (in some patients)

•

en:subcutaneous edema

•

en:mild weakness of the small hand muscles

•

en:increased muscle tone (early in life)

•

en:glycogen deficiency in muscle fibers

•

en:fiber size variation (in some patients)

•

en:fatty replacement

•

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

•

en:ragged red fibers seen on biopsy

•

en:bulbar weakness

•

en:emg shows fibrillation potentials

•

en:increased internal nuclei seen on muscle biopsy

•

en:lipoatrophy, generalized

•

en:muscle weakness, distal (in some patients)

•

en:dystrophic skeletal muscle seen on biopsy

•

en:secondary myopathic features

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:emg consistent with chronic neurogenic disorder

•

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

•

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

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:variation of myofiber diameter

•

en:mtdna deletions seen on muscle biopsy

•

en:atrophic muscle fibers

•

en:decreased mtdna

•

en:difficulty climbing stairs, jumping, running

•

en:edematous hands and feet (1 patient)

•

en:group fiber atrophy (in some patients)

•

en:lack of facial subcutaneous fat

•

en:lower limbs more often affected

•

en:superficial rerouting of lymph through the skin

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:poor musculature

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:dystrophic changes may be present

•

en:muscle biopsy shows lipid deposition

•

en:shortened acetylcholine receptor (achr)-induced ion channel opening

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:muscle weakness trunk

•

en:increased connective tissue (in some patients)

•

en:normal sensation

•

en:neonatal hypertonias

•

en:loss of truncal subcutaneous adipose tissue

•

en:affected muscles show atrophy

•

en:gait abnormality

•

en:decreased density of calcium release units

•

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

•

en:atrophic fibers seen on biopsy

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:patients may have distal or proximal muscle weakness, or both

•

en:hernia

•

en:nemaline bodies occur in type 1 fibers

•

en:z-disk streaming

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:tibialis anterior muscle affected

•

en:severely decreased or absent lamp2 protein

•

en:muscle biopsy may show inflammatory changes

•

en:minimal muscle mass

•

en:increased muscle tone in the lower limbs

•

en:hypertonicity (uncommon)

•

en:histochemically normal type-ii muscle fibers

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:abnormal sarcoplasmic reticulum elements

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy of the lower leg muscles

•

en:cytoplasmic inclusion bodies (finding)

•

en:decreased muscle succinate dehydrogenase

•

en:abnormal mitochondrial proliferation

•

en:muscle weakness, lower limbs, during exercise

•

en:myalgia (in some patients)

•

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

•

en:neonatal hypotonia

•

en:normal or increased facial adipose tissue

•

en:vacuolar degeneration

•

en:vacuoles are autophagocytic

•

en:muscular hypotonia of the trunk

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle fibers contain internal nuclei

•

en:muscle weakness (cvs+)

•

en:muscle weakness

•

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

•

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

•

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

•

en:muscle weakness associated with fasting or infection

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:muscle biopsy shows glycogen storage

•

en:mallory-like bodies

•

en:muscle biopsy shows dystrophic changes

•

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

•

en:muscle atrophy, progressive

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle aches, intermittent

•

en:mri shows increased connective tissue and fat

•

en:mitochondrial proliferation

•

en:marked lack of adipose tissue

•

en:myokymia

•

en:myogenic changes seen on emg

•

en:repetitive action potentials in response to single nerve stimulation

•

en:necrosis and degeneration seen on muscle biopsy

•

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

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:some patients never achieve ambulation

•

en:smooth muscle may also become involved

•

en:small atrophic fibers (in some patients)

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:shoulder weakness and atrophy

•

en:scattered necrotic fibers

•

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

•

en:necrotic fibers

•

en:lipohypoplasia, regional

•

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

•

en:proximal muscle weakness, mild

•

en:proximal limb muscle weakness (occurs later)

•

en:proximal and distal muscle atrophy

•

en:prominent muscular appearance

•

en:poor exercise tolerance

•

en:numerous vacuole-like areas

•

en:normal or increased facial and neck adipose tissue

•

en:normal or increased adipose tissue around the neck

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:lymphedema of lower extremity

•

en:hypotonia, severe (patient b)

•

en:large lipid droplets

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:disuse atrophy

•

en:distal muscle weakness may occur

•

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

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:difficulty walking and climbing stairs

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:degrading mitochondria

•

en:degeneration of junctional folds

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:decreased muscle bulk

•

en:edema of lower extremity

•

en:decreased mitochondria

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

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

•

en:cores extend along length of muscle fiber

•

en:cellulitis due to immunodeficiency

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrophic

•

en:acquired partial lipodystrophy

•

en:abnormal z bands

•

en:toe-walking gait

•

en:easy fatigue

•

en:electron microscopy showed z-disk streaming

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:hypotonia (families a and b)

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:infantile axial hypotonia

•

en:increased perisarcolemmal calcium deposition

•

en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas

•

en:increased muscle tone at birth

•

en:increased muscle tone, neonatal (in severely affected patients)

•

en:increased endo- and perimysial connective tissue

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia (patients a and c)

•

en:hypotonia, neonatal and later

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:hypoglycosylation of alpha-dystroglycan

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypertonicity of the lower limbs

•

en:humeroperoneal weakness and atrophy

•

en:handgrip myotonia

•

en:fatty infiltration seen on muscle biopsy

•

en:facial muscle weakness and atrophy, progressive

•

en:exertional leg pain

•

en:exercise-induced muscle fatigue

•

en:emg shows myopathy

•

en:emg shows chronic denervation

•

en:thickened subcutaneous tissue

•

en:difficulty walking up stairs

•

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

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:muscle weakness begins proximally

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, severe

•

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

•

en:muscle stiffness or aching

•

en:muscle spasticity

•

en:muscle pain with exercise (in older patients)

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:myotonia is most pronounced in the extremities

•

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

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:muscle atrophy, diffuse, severe

•

en:muscle activity is electrically silent on emg

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:mri shows fatty replacement

•

en:lower limbs more affected than upper limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:loss of antigravity strength

•

en:myopathic findings on biopsy have been occasionally reported

•

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

•

en:inguinal hernia

•

en:small miniature endplate currents (mepc)

•

en:wide variation in fiber size

•

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

•

en:tubular aggregates seen on biopsy

•

en:type 2 muscle fiber atrophy

•

en:tubular aggregates seen on muscle biopsy

•

en:truncal hypotonia (family a)

•

en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:stiffness

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

en:soft fleshy palms (50%)

•

en:slim, muscular build (in some patients)

•

en:necrotic changes (finding)

•

en:shoulder girdle weakness

•

en:shortened open channel duration

•

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

•

en:ragged-red fibers on muscle biopsy

•

en:proximal muscles may be mildly affected

•

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

•

en:progressive loss of facial adipose tissue

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:panniculitis

•

en:neurogenic atrophy seen on muscle biopsy

•

en:nemaline rods may be observed

•

en:lipid droplets seen on muscle biopsy

•

en:upper limb muscle hypoplasia

•

en:increased fibrosis (family a)

•

en:atrophy, mild (in some cases)

•

en:decremental response to repetitive nerve stimulation

•

en:decreased shank muscle mass

•

en:decreased muscle mass (in some patients)

•

en:decreased distal reflexes

•

en:congenital myopathy (in one patient)

•

en:chronic fatigable muscles

•

en:chronic denervation seen on emg

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:attacks may present during or after sleep

•

en:atrophy of upper girdle muscles

•

en:asymmetric muscle involvement

•

en:disorganization of the myofibrillar pattern

•

en:anasarca

•

en:absence of myotonia in infancy (congenital form)

•

en:absence of caveolin-3 staining

•

en:z-band streaming

•

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

•

en:waddling gait

•

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

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:increased falls

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:deglutition disorders

•

en:upper limb involvement occurs later or not at all

•

en:distal limb muscle weakness, lower more than upper

•

en:generalized hypotonia

•

en:increased connective tissue and fat

•

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

•

en:hypoplasia of supraspinatus muscle

•

en:hypoplasia of infraspinatus muscle

•

en:hangrip myotonia

•

en:granular deposits in the sarcomeres

•

en:gowers sign

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:generalized muscle weakness, severe

•

en:generalized muscle contractions, episodic

•

en:hypotonia (untreated hypothyroidism)

•

en:gait unsteady

•

en:emg shows denervation

•

en:distal muscle atrophy due to denervation

•

en:gait abnormalities (occurs later)

•

en:distal muscle atrophy due to neuropathy

•

en:edema is present at birth and then slowly decreases

•

en:inability to sit or hold head up

•

en:emg shows neurogenic changes consistent with denervation

•

en:evidence of lymphatic rerouting

•

en:focal loss of cross- striations

•

en:fragmented mitochondrial network

•

en:emg shows reduction of voluntary recruitment

•

en:mitochondrial dna depletion, severe

•

en:muscle cramps, painful, recurrent

•

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

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:increased mitochondria with abnormal cristae

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:muscle amyotrophy

•

en:mildly increased mtdna

•

en:minicores extend full fiber diameter

•

en:mild weakness

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:low maximum workload on exercise testing

•

en:loss of ambulation between third and sixth decade

•

en:loss of achr

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:lipoatrophy of trunk

•

en:limb muscular atrophy

•

en:jitter

•

en:muscle cramps during exercise

•

en:lower limb muscle atrophy

•

en:normal or decreased facial and neck adipose tissue

•

en:muscle mitochondria normal by histochemical analysis

•

en:pelvic girdle weakness and atrophy

•

en:spontaneous muscle activity

•

en:increased glycogen

•

en:small miniature endplate potentials (mepp)

•

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

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:proximal muscle weakness, less severe

•

en:progressive proximal muscle weakness

•

en:progressive distal muscle weakness

•

en:polymyositis

•

en:plantar fibromatosis

•

en:pectoralis hypoplasia

•

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

•

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

•

en:no facial muscle involvement

•

en:normal dystrophin immunostaining

•

en:nonspecific myopathic changes seen on biopsy

•

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

•

en:nemaline rods (rare)

•

en:myotonia seen on emg

•

en:myasthenic syndrome (hcs)

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness, mainly proximal and axial

•

en:increased lysosomal glycogen

•

en:disruption plasma membrane (in some patients)

•

en:increased central nucleation

•

en:calf hypertrophy (in some patients)

•

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

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased lipoic acid

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased cytochrome c oxidase activity

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

en:decreased achilles reflex

•

en:congophilic amyloid material

•

en:calf hypertrophy (reported in 1 family)

•

en:buffalo hump

•

en:difficulty raising arms

•

en:axial weakness

•

en:axial muscle hyperextension, episodic

•

en:atrophic fibers

•

en:ankle clonus

•

en:angioedema

•

en:absence of muscle pseudohypertrophy

•

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

•

en:abnormal subcutaneous fat tissue distribution

•

en:abnormal aggregation of mitochondria

•

en:tubular aggregates in muscle fibers may occur

•

en:degenerating fibers

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:impaired heel-walking

•

en:foot-drop

•

en:hypotonia at birth

•

en:hypotonia, axial, severe

•

en:hypoplasia of serratus anterior muscle

•

en:glycogen accumulation seen on biopsy

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle hypertrophy

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized amyotrophy

•

en:frequent falls

•

en:foot extensor muscle weakness (later onset)

•

en:flaccid neck

•

en:disruption of the m-line

•

en:fibrillations in affected muscles

•

en:fiber type grouping

•

en:fasciculations (less common)

•

en:familial generalized lipodystrophy

•

en:facial diplegia

•

en:enlarged mitochondria

•

en:emg shows increased insertion activity and fibrillation

•

en:distal muscle weakness, predominantly lower limbs

•

en:distal muscle wasting due to peripheral neuropathy

•

en:distal lower limb anterior compartment weakness

•

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

•

en:triceps weakness

•

en:muscle biopsy shows fiber type disproportion

•

en:tubular aggregates mainly in type 1 fibers

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:neck flexor weakness

•

en:myopathy, mild to severe

•

en:myopathic changes seen on emg of affected muscle

•

en:myogenic profile on electromyography

•

en:myoclonic spasms

•

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

•

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

•

en:muscle pain (in some patients)

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:normal neonatal period may occur before weakness is apparent

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy, mild

•

en:mitochondrial dna deletion (1 patient)

•

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

•

en:mild variability in muscle fiber size

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:macroglossia

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:lymphangitis, episodic

•

en:loss of subcutaneous fat, diffuse

•

en:necrotic muscle fibers

•

en:normal or increased truncal adipose tissue

•

en:lipoma

•

en:soft tissue vascular malformations

•

en:type 1 fiber predominance seen on muscle biopsy

•

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

•

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

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:type 2 fiber hypertrophy

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:transient neonatal hypotonia (less common)

•

en:tenderness of lower extremities

•

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

•

en:streaming of the z-disk seen on electron microscopy

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:poor head control

•

en:signs of denervation seen on biopsy

•

en:reduced muscle tone

•

en:rectus fascia separation

•

en:ragged red fibers (in some patients)

•

en:ragged-red muscle fibers

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

en:proximal amyotrophy

•

en:prominent musculature

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

en:poor muscle build

•

en:loss of adipose tissue occurs around puberty

•

en:toe and foot dorsiflexor weakness

•

en:lipodystrophy

•

en:biceps brachii atrophy

•

en:decreased acetylcholine receptors (achr) at endplate junctional folds (less common)

•

en:cytochrome-c oxidase deficiency

•

en:cores contain densely packed myofilaments

•

en:contractures of distal lower limbs

•

en:congenital absence of gluteal muscles

•

en:casq1-immunopositive inclusions

•

en:calf hypertrophy (less common)

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:buffalo hump (rare)

•

en:bilateral foot drop

•

en:attacks relieved by potassium administration

•

en:decreased exercise tolerance

•

en:attacks precipitated by potassium

•

en:atrophy of shins

•

en:atrophy of anterior compartment tibial muscles

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:abnormal mitochondria in skeletal muscle biopsy

•

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

•

en:abnormal distribution of subcutaneous fat

•

en:walking may be limited

•

en:type ii fiber predominance

•

en:lipoatrophy

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

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

•

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

•

en:hypertonia in infancy

•

en:lipid accumulation in muscle tissue

•

en:distal muscle atrophy, predominantly lower limbs

•

en:intranuclear inclusions (1 family)

•

en:internal nuclei

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased internal nuclei

•

en:increased focal mitochondrial density

•

en:increased endomysial connective tissue around muscle fibers

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypotonic

•

en:independent walking may not be achieved

•

en:head drop due to neck muscle weakness

•

en:dysarthria

•

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

•

en:distal weakness, upper and lower limbs (variable)

•

en:generalized limb muscle atrophy

•

en:dorsal and flexor muscles of the forearm are involved

•

en:lipid storage, mainly in type i fibers

•

en:electromyography shows myotonic discharges

•

en:fiber necrosis

•

en:exercise intolerance (less common)

•

en:focal areas of z-band disarray devoid of mitochondria seen on electron microscopy

•

en:extensive fatty infiltration on biopsy

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle weakness, hypokalemia-related

•

en:muscle wasting due to chronic denervation

•

en:muscle pain (less common)

•

en:muscle hypertrophy in affected area

•

en:muscle fiber necrosis

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows no dystrophic changes

•

en:lymphangiectasia

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle atrophy (in some patients)

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle

•

en:multi-core congenital myopathy

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:muscle weakness and atrophy

•

en:muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)

•

en:non-pitting edema

•

en:muscle weakness of limb

•

en:plasma membrane discontinuities

•

en:rounded, atrophic fibers (family a)

•

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

•

en:reduced muscle strength (in some patients)

•

en:proximal muscle weakness (120270.0002)

•

en:proximal muscles more often affected

•

en:prolonged miniature endplate currents

•

en:progressive interictal weakness is common

•

en:poor muscle bulk

•

en:patchy muscle fiber degeneration

•

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

•

en:painful swelling in aponeuroses

•

en:neurogenic changes

•

en:nemaline rod formation

•

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

•

en:nemaline bodies

•

en:necrotic and regenerating muscle fibers

•

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

•

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

•

en:muscular dystrophy

•

en:internal nuclei seen on muscle biopsy

•

en:decremental muscle response to repetitive nerve stimulation

•

en:increased variability in muscle fiber diameter

•

en:calf atrophy (later onset)

•

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

•

en:decreased muscle mass (especially of limbs)

•

en:decreased muscle density on imaging

•

en:decreased expression of the vdac1 protein

•

en:decreased endplate potential and amplitudes

•

en:cervical muscle weakness

•

en:carpopedal spasm

•

en:calf pseudohypertrophy rare

•

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

•

en:denervation of skeletal muscles

•

en:atrophy, neurogenic muscular

•

en:amyotrophy, neurogenic

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:acute rhabdomyolysis

•

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

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:abnormal fat distribution

•

en:abnormal fatigue

•

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

•

en:deep finger muscle weakness

•

en:difficulty rising from chair

•

en:increased fatty and connective tissue in skeletal muscle

•

en:fatty infiltration

•

en:inability to stand on tiptoes

•

en:hypotonia (1 patient)

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of the hand muscles (29%)

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy

•

en:fiber size variation

•

en:fat pad anterior to malleolus

•

en:extensor finger muscle weakness

•

en:difficulty running and jumping

•

en:exercise-induced myalgia

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:endplate abnormalities

•

en:edema, generalized

•

en:easy fatigability

•

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

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:distal limb muscle weakness occurs later

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:muscle fibers may contain abnormal polysaccharide

•

en:no staining for oxidative enzymes

•

en:necrotic and regenerating fibers

•

en:myopathy (in some patients)

•

en:myofibrillar disorganization

•

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

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness in forearm muscles

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

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

•

en:muscle fatigue

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle, weakness, distal, hands and fingers (in some patients)

•

en:mtdna depletion seen on muscle biopsy

•

en:minicores (in some)

•

en:lymphedema of upper and/or lower limbs (in some patients)

•

en:lymphedema, dorsa of feet

•

en:low muscle mass

•

en:painful swelling in fasciae

•

en:pelvic girdle muscle atrophy

•

en:levator palpebrae superioris atrophy

•

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

•

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

•

en:wrist swelling

•

en:weakness worsened by activity

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:weakness

•

en:variable fiber size

•

en:triceps aplasia

•

en:tetany

•

en:subsarcolemmal mitochondrial aggregates

•

en:pelvic muscle involvement occurs later

•

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

•

en:severe form shows absence of spontaneous activity at birth

•

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

•

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

•

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

•

en:reduced muscle mass

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness (85% of patients)

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:normal or increased abdominal adipose tissue

•

en:lack of antigravity movements (patient b)

•

en:accumulated lipid droplets seen on muscle biopsy

•

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

•

en:cores or minicores

•

en:complex v deficiency

•

en:centrally nucleated skeletal muscle fibers

•

en:centralized nuclei may be seen

•

en:centralized myonuclei

•

en:calf muscle weakness

•

en:biopsy shows myopathy without vacuoles

•

en:ankle edema (finding)

•

en:absence of pectoralis minor muscle

•

en:decreased cytochrome c oxidase staining

•

en:abnormal irregular myofibrillar network

•

en:abnormal axons with sprouting and swelling

•

en:abnormal aggregates of desmin and filamin c

•

en:'hanging' big toe

•

en:muscle soft, tissue

•

en:unable to walk

•

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

•

en:increased variability of fiber size seen on muscle biopsy

•

en:superior rectus atrophy

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:thin musculature

•

en:decreased mitochondrial respiratory chain complex activity

•

en:edema

•

en:hypotonia, truncal and appendicular

•

en:hyperactive deep tendon reflexes

•

en:gluteal hypoplasia

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:firm muscles

•

en:exercise-induced muscle stiffness

•

en:increased connective tissue

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:exercise-induced muscle cramps

•

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

•

en:decreased quantal release

•

en:distal muscle atrophy (1 patient)

•

en:decreased muscle bulk (in one patient)

•

en:decreased or absent ankle reflexes

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

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

•

en:distal amyotrophy

•

en:distal limb muscle atrophy, lower more than upper

•

en:muscle mri shows fatty infiltration

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle pain and cramping on exertion

•

en:limb-girdle muscle atrophy

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers

•

en:muscles become hard and tender during exercise

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:minimal subcutaneous fat

•

en:mild muscle weakness

•

en:lymphedema of the extremities

•

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

•

en:limb hypertonia

•

en:muscle weakness, proximal more than distal

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:muscle paralysis, episodic

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:muscle weakness (type i)

•

en:rimmed vacuoles with basophilic granular material

•

en:inflammatory cells absent

•

en:weakness of ankle plantar flexion

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:vacuolar myopathy may occur

•

en:upper and/or lower limbs may be affected

•

en:swelling of the extremities, episodic

•

en:shortening of various muscle-tendon groups in feet

•

en:respiratory distress (congenital form)

•

en:muscle weakness is not a feature

•

en:proximal muscle weakness, lower limbs, mild

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:predominance of oxidative fibers

•

en:pain or cramping during sustained manual activity

•

en:normal lamp2 staining (309060)

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

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

•

en:muscular fasciculation

•

en:muscular appearance

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:'sloping' shoulders due to muscle atrophy

•

en:hypotrophic type 2 muscle fibers

•

en:decreased ability to run

•

en:distal limb muscle weakness (less common)

•

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

•

en:deltoid muscle hypoplasia

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decreased postsynaptic length

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

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

•

en:clumsiness

•

en:distal muscle atrophy, lower legs

•

en:biopsy muscle normal

•

en:biceps aplasia

•

en:attacks of weakness

•

en:attacks last 4 to 24 hours

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:apoptotic nuclei

•

en:angular fibers (in some patients)

•

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

•

en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

•

en:distal lower limb muscle weakness and atrophy

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:hypotonia, mild

•

en:fiber type variation seen on biopsy

•

en:hyporeflexia or areflexia

•

en:hyporeflexia in affected muscles

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypoplasia of cervical paravertebral muscles

•

en:hemihypertrophy of right arm and leg (rare)

•

en:grip strength decreased

•

en:gowers sign present

•

en:focal loss of cross striations seen on muscle biopsy

•

en:floppy infant syndrome

•

en:fiber-type grouping pattern

•

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

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:facial muscle atrophy

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows polyphasic continuous motor unit discharges

•

en:emg shows fasciculations

•

en:edema of dorsum of hands and feet

•

en:dystrophic changes occur later

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:abnormal size and shape of synaptic endplates

•

en:emg shows myopathic pattern

•

en:arm/shoulder muscle hypoplasia

•

en:myofibromatosis

•

en:predominantly lower limb lymphedema

•

en:poor muscle mass

•

en:peroneal muscle atrophy

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:nuclear clumps

•

en:nemaline rods (in some patients)

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes seen muscle biopsy

•

en:myasthenias

•

en:proximal muscle weakness

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness (in some patients)

•

en:muscle weakness, variable

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, mainly proximal

•

en:muscle wasting (especially legs and arms)

•

en:progression to proximal muscle weakness

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle pain after exercise

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:z-disks with abnormal homogeneous material

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:umbilical hernia

•

en:type 1 fiber predominance

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:thick palmar fascia

•

en:swelling of the affected areas

•

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:slowly progressive limb-girdle myopathy

•

en:autophagic rimmed vacuoles

•

en:rigidity (uncommon)

•

en:rhabdomyolysis (in some patients)

•

en:replacement of myofibers with connective tissue

•

en:relative sparing of the tibialis anterior

•

en:redundancy of basal lamina with accumulated debris

•

en:reduced subcutaneous adipose tissue

•

en:muscle wasting, progressive

•

en:rupture of muscle

•

en:muscle hypertonia

•

en:fiber-type predominance seen on muscle biopsy (in some patients)

•

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

•

en:increased internal nuclei in skeletal muscle fibers

•

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

•

en:hypotonia (2 patients)

•

en:hypotonia, severe, persistent

•

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

•

en:fiber type variation

•

en:fiber size variation seen on muscle biopsy

•

en:emg shows myopathic and neurogenic changes

•

en:isolated necrotic fibers

•

en:distal myopathy (in 1 family)

•

en:distal muscle atrophy, affecting the lower limbs

•

en:decreased postsynaptic achr

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:central nuclei

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:muscle biopsy shows small rounded fibers

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:distal atrophy of the legs

•

en:limb-girdle muscle weakness

•

en:muscles do not contract upon electrical stimulation

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:limb lymphedema (in some patients)

•

en:muscle biopsy shows neurogenic angulated fibers

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

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

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity

•

en:muscle biopsy shows grouped atrophy

•

en:multiple mitochondrial dna deletions

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mild endplate myopathy

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

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

•

en:many fibers with internal nuclei

•

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

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:mri may show cervical spinal cord atrophy

•

en:loss of subcutaneous adipose tissue in limbs

•

en:limb-girdle muscle weakness (2 families)

•

en:hand and foot weakness

•

en:hyporeflexia

•

en:hypothenar muscle atrophy

•

en:hypotrophy of the small hand muscles

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:mild muscular hypotonia

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:limb weakness, proximal followed by distal

•

en:localized cellulitis

•

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

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:generalized muscle wasting

•

en:muscle biopsy shows myopathic changes

•

en:hamstring muscle affected

•

en:disruption of sarcomeres with disorganization of the z band

•

en:frontalis muscle weakness

•

en:flaccid weakness or paralysis, episodic attacks

•

en:fatty deposition

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:emg shows high-frequency spontaneous discharges

•

en:edema reoccurs with infections

•

en:edema, subcutaneous, generalized

•

en:dystrophic changes

•

en:distal muscle weakness

•

en:difficulty walking

•

en:difficulty running or inability to run

•

en:deposits immunoreactive to beta-amyloid protein

•

en:depletion of mitochondrial dna

•

en:denervation seen on emg

•

en:muscle hematoma

•

en:muscle cramp

•

en:scapuloperoneal weakness

•

en:muscle weakness, congenital

•

en:prominent involvement of the quadriceps femoris muscles

•

oedème facial

•

en:progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:upper limb involvement may occur later

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:skeletal muscle damage

•

en:shoulder muscle weakness

•

en:shortening of various muscle-tendon groups in legs

•

en:secondary myopathic changes

•

en:scapuloperoneal amyotrophy

•

en:retroperitoneal fibrosis (rare)

•

en:proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)

•

en:proximal muscle weakness, limb-girdle distribution

•

en:primarily affects lower limbs

•

en:muscle weakness, distal and proximal, lower limbs (1 family)

•

en:preserved nerve terminals seen on muscle biopsy

•

en:preserved junctional folds

•

en:percussion myotonias

•

en:patients achieve independent ambulation, but may lose it

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:normal mitochondrial morphology (1 patient)

•

en:neurogenic atrophy

•

en:myotonia

•

en:myopathic pattern seen on emg

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness (hcs)

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, proximal and distal

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

◀

Génériques

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en:muscle

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118529 • caches: c1=50 c2=1240 c3=57

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