Diko : en:mildly decreased cytochrome c oxidase activity

en:mildly decreased cytochrome c oxidase activity

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3554535

Associations d'idées

[F]

›

1000

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:secondary loss of sarcolemmal caveolin-3

•

en:centrally nucleated skeletal muscle fibers

•

en:distal limb muscle atrophy (less common)

•

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

•

en:increased fatty infiltration

•

en:muscle weakness, proximal and distal

•

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

•

en:neuropathic process seen on muscle biopsy

•

en:pectoralis hypoplasia

•

en:generalized amyotrophy

•

en:loss of truncal subcutaneous adipose tissue

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:muscle atrophy, mild

•

en:muscle weakness due to peripheral neuropathy

•

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

•

en:severe form shows absence of spontaneous activity at birth

•

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

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:muscle biopsy shows poor development of the postsynaptic membrane

•

en:nemaline bodies are rarely intranuclear

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:proximal muscle involvement may occur

•

en:secondary myopathic changes

•

en:minicores or core-like regions may be present

•

en:tendinous and tuberous xanthoma

•

en:weakness may be exacerbated by illness or stress

•

en:wide variation in fiber size

•

en:attacks of weakness

•

en:distal muscle weakness, mild

•

en:muscle biopsy shows fiber type disproportion

•

en:structurally abnormal mitochondria

•

en:toe and foot dorsiflexor weakness

•

en:weakness of the extensor muscles of the hands (initially)

•

en:muscle biopsy shows small nerve terminals

•

en:decreased thiamine pyrophosphate

•

en:exercise-induced muscle fatigue

•

en:fat pads on the hands and feet

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:bilateral facial weakness (congenital form)

•

en:muscle fiber splitting (in some patients)

•

en:low maximum workload on exercise testing

•

en:muscle pain and cramps following exercise

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle stiffness

•

en:decreased mtdna

•

en:normal or decreased facial and neck adipose tissue

•

en:small endplate

•

en:nemaline bodies occur in type 1 fibers

•

en:flaccid weakness or paralysis, episodic attacks

•

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

•

en:muscle weakness usually does not occur

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:abnormal iron deposition in mitochondria

•

en:distal limb muscle atrophy, lower more than upper

•

en:filamentous inclusions in muscle fibers

•

en:increased fibrosis

•

en:muscle biopsy shows neurogenic atrophy

•

en:rhabdomyolysis, episodic and recurrent

•

en:tremor of the upper limb

•

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

•

en:face edema

•

en:fatty infiltration

•

en:lipohypoplasia, regional

•

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

•

en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization

•

en:scapular muscle weakness

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:anasarca

•

en:hip girdle muscle atrophy

•

en:difficulty rising from a squatting position

•

en:lower limb muscle atrophy

•

en:muscle weakness, distal (in some patients)

•

en:neck muscle hypoplasia

•

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

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:muscle wasting, progressive

•

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

•

en:edema is present at birth and then slowly decreases

•

en:mild muscle atrophy in forearm muscles

•

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

•

en:increased fatty and connective tissue in skeletal muscle

•

en:myogenic changes seen on emg

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:increased visceral fat

•

en:mild variability in muscle fiber size

•

en:tenderness of lower extremities

•

en:vacuolar myopathy

•

en:distal muscle weakness, upper and lower limbs

•

en:decreased muscle mass, especially distally

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

en:absence of some scapular muscles (less common)

•

en:angulated atrophic muscle fibers

•

en:painful adipose tissue

•

en:loss of subcutaneous adipose tissue in limbs

•

en:progressive loss of facial adipose tissue

•

en:lower and upper limbs affected

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:upper limb weakness

•

en:neurogenic changes

•

en:normal or increased truncal adipose tissue

•

en:fiber-type grouping pattern

•

en:skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna (mtdna)

•

en:muscle hyperirritability

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:glycogen depletion in skeletal muscle

•

en:disruption plasma membrane (in some patients)

•

en:proximal muscles more often affected

•

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

•

en:increased internal nuclei

•

en:cranial muscles spared

•

en:muscle pain (less common)

•

en:muscle pain with exercise (in older patients)

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:muscle shows lipid accumulation

•

en:muscle wasting (especially legs and arms)

•

en:muscle weakness, congenital

•

en:muscle biopsy shows variation in fiber size

•

en:muscle coenzyme q deficiency

•

en:muscles become hard and tender during exercise

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows dystrophic features

•

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

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy, severe

•

en:mild proximal muscle weakness (<10% of patients)

•

en:muscle weakness, distal more than proximal

•

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

•

en:prominent veins, lower limbs

•

en:muscle weakness, predominantly proximal

•

en:pseudohypertrophy of muscle

•

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

•

en:spasticity

•

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

•

en:skeletal muscle shows dystrophic changes

•

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

•

en:sarcomere disappearance seen on muscle biopsy

•

en:relative muscle weakness, especially in pelvic girdle

•

en:proximal muscle weakness, lower limbs, mild

•

en:muscle weakness and atrophy

•

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

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

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

•

en:neonatal hypotonia

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes early in disease seen on emg

•

en:merosin-positive biopsy

•

en:inclusion body myopathy

•

en:low muscle mass

•

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

•

en:difficulty raising arms

•

en:decreased muscle mass in the thighs

•

en:decreased exercise tolerance

•

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

•

en:congophilic staining

•

en:chronic denervation seen on emg

•

en:calf hypertrophy (less common)

•

en:disruption of sarcomeres with disorganization of the z band

•

en:buffalo hump (rare)

•

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

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophic calf muscles

•

en:absence of myotonia in infancy (congenital form)

•

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

•

en:type 2 muscle fiber atrophy

•

en:disorganization of the myofibrillar pattern

•

en:distal limb muscular weakness due to peripheral neuropathy

•

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

•

en:hypoplasia of serratus anterior muscle

•

en:loss of independent ambulation around age 12 years

•

en:loss of facial adipose tissue

•

en:lipoatrophy, generalized

•

en:leg cramps may occur with exercise

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:inflammatory cells absent

•

en:hypotonia

•

en:forearm muscle weakness

•

en:distal muscle weakness

•

en:fibrillations in affected muscles

•

en:evidence of reinnervation seen on emg (1 family)

•

en:emg - repetitive muscle discharges

•

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

•

en:dystrophic changes seen on muscle biopsy

•

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

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:a subset of patients develop bilateral weakness

•

en:velopharyngeal muscle weakness

•

en:muscle biopsy shows ragged red fibers

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness and atrophy, proximal

•

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

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, episodic

•

en:muscle wasting due to chronic denervation

•

en:muscle biopsy shows type 2 fiber atrophy

•

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

•

en:myoclonic spasms

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle atrophy (type i)

•

en:muscles have a woody consistency on palpation

•

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

•

en:mitochondrial complex i deficiency

•

en:muscle weakness increases with age

•

en:myopathy in approximately 45% of patients

•

en:minimal subcutaneous fat

•

en:shoulder girdle weakness

•

en:usually no myopathic changes on biopsy

•

en:umbilical depression

•

en:tubulofilamentous inclusions

•

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

•

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

•

en:thenar eminence hypoplasia

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:scapular muscle atrophy

•

en:necrotic and regenerating muscle fibers

•

en:rhabdomyolysis with exercise (in older patients)

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle weakness, mild

•

en:progressive distal and proximal symmetric limb weakness

•

en:poor head control

•

en:pharyngeal muscle weakness

•

en:nonspecific myopathy

•

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

•

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

•

en:many fibers with internal nuclei

•

en:cardiomyopathy is not a feature

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:deposits immunoreactive to beta-amyloid protein

•

en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:decreased complex i activity (rare)

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activity of mitochondrial complex i

•

en:cox-depleted fibers

•

en:bilateral foot drop

•

en:dystrophic changes on biopsy

•

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

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:acetazolamide may worsen symptoms

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:dystrophic changes

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:edema of lower extremity

•

en:granular deposits in the sarcomeres

•

en:lipoma

•

en:emg shows myopathy

•

en:limb lymphedema (in some patients)

•

en:leg edema

•

en:increased connective tissue and fat in muscles

•

en:increased connective tissue

•

en:hypotonia (in some patients)

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:generalized limb muscle atrophy

•

en:gait disturbance

•

en:foot-drop

•

en:fiber-type variability

•

en:fasciculations (in some patients)

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:nuclear clumps

•

en:muscle biopsy shows myofiber degeneration

•

en:no lipodystrophy in face and neck

•

en:normal phosphorylase kinase activity in muscle

•

en:myotonia is present in majority of cases

•

en:myopathy, nonprogressive

•

en:muscle weakness (1 patient)

•

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

•

en:lipomas or lipomatous masses (most cases)

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy, progressive

•

en:muscle activity is electrically silent on emg

•

en:mitochondrial swelling

•

en:mitochondrial myopathy, severe

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:lymphangitis, episodic

•

en:lipid and glycogen accumulation

•

en:panniculitis

•

en:painful swelling in fasciae

•

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

•

en:pelvic girdle weakness and atrophy

•

en:thick palmar fascia

•

en:z-disks with abnormal homogeneous material

•

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

•

en:variation of fiber size and shape

•

en:limb-girdle myopathy

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

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

•

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

•

en:tetanus-like muscle contractions

•

en:percussion myotonias

•

en:swelling of the extremities, episodic

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:subcutaneous lipomatous tissue

•

en:some patients never achieve ambulation

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:proximal and distal muscle atrophy

•

en:positive staining for atpase activity at ph of 4.3

•

en:polyglucosan accumulation

•

en:limb weakness and atrophy

•

en:denuded postsynaptic regions

•

en:limb-girdle muscle weakness

•

en:axial hypotonia (in some patients)

•

en:contractures of upper limbs (in some patients)

•

en:congophilic eosinophilic inclusions

•

en:calf muscle hypoplasia

•

en:calf hypertrophy (early in the disease)

•

en:calf and thigh cramping muscle pains

•

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

•

en:broad-based gait

•

en:biopsy shows dystrophic changes

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:decreased achilles reflex

•

en:autophagic rimmed vacuoles

•

en:attacks relieved by potassium administration

•

en:abnormal aggregation of mitochondria

•

en:atrophy

•

en:arm/shoulder muscle hypoplasia

•

en:acute rhabdomyolysis

•

en:acquired partial lipodystrophy

•

en:absence of telethonin protein

•

en:absence of caveolin-3 staining

•

en:cores or minicores

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:internal nuclei seen on biopsy (in some patients)

•

en:exertional fatigue

•

en:increased lipid

•

en:inclusions are tdp43-immunoreactive

•

en:impaired heel-walking

•

en:hypotonia (2 patients)

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:gowers sign present

•

en:glycogen deficiency in muscle fibers

•

en:gluteal hypoplasia

•

en:gait unsteady

•

en:emg may show myopathic features

•

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

•

en:edema reoccurs with infections

•

en:edema

•

en:distal muscle weakness, occurs initially

•

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:distal atrophy of the legs

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:decreased muscle density on imaging

•

en:decreased muscle action potential after warming affected muscle

•

en:atrophy of anterior compartment tibial muscles

•

en:muscle soft, tissue

•

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

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myalgia, episodic

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness, proximal greater than distal

•

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

•

en:muscle cramp

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows preserved junctional folds

•

en:muscle biopsy shows inflammation with t cells

•

en:nonspecific muscle fiber atrophy

•

en:muscle biopsy may show mild kinetic abnormalities of the achr

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy, primarily in the legs

•

en:muscle

•

en:mitochondrial dna deletion (1 patient)

•

en:minicores (in some)

•

en:loss of antigravity strength

•

en:large lipid droplets

•

en:lack of integrin alpha-7 staining

•

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

•

en:normal dystrophin immunostaining

•

en:inguinal hernia

•

en:small or absent axon terminals

•

en:z-line streaming see on electron microscopy

•

en:winged scapula

•

en:weakness of ankle plantar flexion

•

en:weakness and wasting of the lower limbs

•

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

•

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

•

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

•

en:transient neonatal hypotonia (less common)

•

en:sparing of small hand and finger muscles

•

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

•

en:normal sensation

•

en:severe muscular hypotonia

•

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

•

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

•

en:reduced muscle bulk

•

en:ragged-red fibers on muscle biopsy

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness

•

en:protein aggregates immunopositive for actin and desmin

•

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

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:increased centralized nuclei

•

en:calf muscle discomfort

•

en:decreased muscle mass

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:decreased glycosylation of alpha-dystroglycan

•

en:cold sensitivity has been reported

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:centralized nuclei, rare

•

en:calf muscle pseudohypertrophy

•

en:calf hypertrophy (reported in 1 family)

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:berardinelli-seip congenital lipodystrophy

•

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

•

en:attacks precipitated by rest after exercise

•

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

•

en:asymmetric muscle involvement

•

en:apoptotic nuclei

•

en:amyotrophy, neurogenic

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:increased adipose fibrosis

•

en:difficulty walking up stairs

•

en:ankle reflex absent

•

en:distal leg muscle atrophy

•

en:gastrocnemius and soleus muscles most affected

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:hyporeflexia

•

en:hand muscle atrophy

•

en:handgrip myotonia

•

en:glycogen accumulation seen on biopsy

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized weakness (adult-onset)

•

en:generalized muscle weakness

•

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

•

en:firm muscles

•

en:edematous hands and feet (1 patient)

•

en:distal lower limb muscle weakness

•

en:fiber type grouping

•

en:duchenne muscular dystrophy (dmd, 310200) in 'complex' form

•

en:hypotonia (45%)

•

en:electromyographic decrements in some muscles

•

en:fat pad anterior to malleolus

•

en:emg shows reduction of voluntary recruitment

•

en:fatigue

•

en:emg shows increased insertion activity and fibrillation

•

en:proximal muscle weakness occurs later

•

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

•

en:proximal muscle weakness, less severe

•

en:progression to wheelchair in fourth decade

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

en:onset of lymphedema around puberty

•

en:normal or increased facial and neck adipose tissue

•

en:myokymia

•

en:neurogenic changes later in disease seen on emg

•

en:myofibrillar disintegration

•

en:muscle weakness in forearm muscles

•

en:muscle hypertrophy in affected area

•

en:muscle fiber regeneration

•

en:decreased postsynaptic length

•

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

•

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

•

en:muscle weakness (in 90% of patients)

•

en:atrophic muscle fiber on biopsy

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:biopsy shows myopathic and dystrophic changes

•

en:muscle atrophy appears later in disease course

•

en:decreased achr at the endplate

•

en:casq1-immunopositive inclusions

•

en:calf muscle hypertrophy

•

en:calf atrophy (later onset)

•

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

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:attacks last 4 to 24 hours

•

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

•

en:atrophic fibers

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:umbilical hernia

•

en:type 1 muscle fiber predominance

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:tubular aggregates seen on muscle biopsy

•

en:symmetrical muscle wasting

•

en:muscle biopsy shows myopathic changes

•

en:distal limb muscle weakness (less common)

•

en:mitochondrial dna depletion (in some)

•

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

•

en:degenerating fibers

•

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

•

en:decreased collagen vi

•

en:decreased caveolae in muscle tissue

•

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

•

en:decreased ability to run

•

en:congenital muscular dystrophy (disorder)

•

en:cellulitis due to immunodeficiency

•

en:distal lower limb muscle weakness and atrophy

•

en:calf muscle enlargement

•

en:biopsy muscle normal

•

en:anterior tibial muscles first involved

•

en:ankle edema (finding)

•

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

•

en:abnormal mitochondrial proliferation

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:difficulty climbing stairs, jumping, running

•

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

•

en:minicores extend full fiber diameter

•

en:hypotonia at birth

•

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

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:lipoatrophy of trunk

•

en:large hypertrophied fibers

•

en:isolated necrotic fibers

•

en:increased muscle glycogen content

•

en:increased connective tissue (in some patients)

•

en:hypotonia (cvs+)

•

en:dysarthria

•

en:hypotonia, mild (1 patient)

•

en:hypoglycosylation of alpha-dystroglycan

•

en:hypertonicity of the lower limbs

•

en:facial muscle weakness

•

en:exercise capacity decreased

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows neurogenic changes

•

en:edema (hands and feet)

•

en:decreased activities of complexes i and iv

•

en:muscle stiffness (in older patients)

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:neck and proximal limb muscle myopathy

•

en:peroneal muscle atrophy

•

en:patients achieve independent ambulation, but may lose it

•

en:paracrystalline inclusions

•

en:no rods

•

en:no facial muscle involvement

•

en:nonspecific myopathic changes seen on biopsy

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myotonic discharges

•

en:premature exertional muscle weakness

•

en:myosin storage myopathy (in some patients)

•

en:myopathy, mild to severe

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathic and neurogenic changes seen on emg

•

en:myofibrillar myopathy

•

en:myofibrillar disorganization

•

en:myalgia with febrile episodes (rare)

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:primarily affects lower limbs

•

en:muscle weakness, variable

•

en:tetany

•

en:deep finger muscle weakness

•

en:z-band streaming

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:weakness

•

en:wasted lower leg muscles

•

en:upper limb involvement may occur later

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:progression to proximal muscle weakness

•

en:shoulder muscle weakness

•

en:shoulder girdle muscle atrophy

•

en:secondary hypertrophy

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rimmed vacuoles

•

en:replacement of affected muscle tissue with fatty tissue

•

en:ragged red fibers seen on biopsy

•

en:proximal myopathy

•

en:muscular appearance

•

en:poor sarcomeric structure (in some patients)

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:eosinophilic inclusions

•

en:immunoreactivity for z-disk proteins

•

en:hypotonia, neonatal and later

•

en:hypoplastic biceps

•

en:foot extensor muscle weakness (later onset)

•

en:fibrillation

•

en:fatty replacement

•

en:facial muscle atrophy of involved side

•

en:emg shows fibrillation potentials

•

en:increased fat and fibrous tissue

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:distal limb muscle weakness and atrophy

•

en:diastasis recti

•

en:degrading mitochondria

•

en:degenerate mitochondrial on em

•

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

•

en:muscle weakness, severe, diffuse

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:inability to jump or squat

•

en:fetal akinesia deformation sequence

•

en:increased internal nuclei in skeletal muscle fibers

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle strength and bulk is preserved

•

en:muscle paralysis, episodic

•

en:muscle pain after exercise

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle hypertrophy (meb)

•

en:muscle biopsy shows atrophy

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

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

•

en:lymphedema, hands (rare)

•

en:loss of lower-limb tendon reflexes

•

en:lipodystrophy

•

en:lipoatrophic appearance

•

en:limb-girdle muscular dystrophy

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:jitter

•

en:independent walking may not be achieved

•

en:muscle weakness, hypokalemia-related

•

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

•

en:myopathic changes seen muscle biopsy

•

en:myofibromatosis

•

en:myasthenias

•

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

•

en:muscular dystrophy

•

en:muscle weakness, mainly proximal and axial

•

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

•

en:muscle mounding

•

en:muscle hematoma

•

en:muscle fiber atrophy, profound (rare)

•

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

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows no dystrophic changes

•

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

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:necrotic and regenerating fibers

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:umbilical cord bleeding

•

en:neurogenic atrophy seen on muscle biopsy

•

en:soft tissue vascular malformations

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:upper and/or lower limbs may be affected

•

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

•

en:toe-walking gait

•

en:thickening of fascia of forearm

•

en:symptoms may be induced by heat

•

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

•

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

•

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

•

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

•

en:shortening of flexor profundus muscle-tendon unit

•

en:secondary loss of merosin and desmin

•

en:replacement of myofibers with connective tissue

•

en:rectus abdominis muscle separation

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness (120270.0002)

•

en:prominent involvement of the biceps brachii muscles

•

en:progressive interictal weakness is common

•

en:muscle biopsy shows decreased postsynaptic areas of clefts and folds

•

en:absence of gamma-sarcoglycan protein

•

en:multi-core congenital myopathy

•

en:atrophic muscle fibers

•

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

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

en:chronic weakness

•

en:centralized nuclei may be seen

•

en:biceps aplasia

•

en:atrophy of upper girdle muscles

•

en:atrophy of shins

•

en:angulated fibers

•

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

•

en:angulated atrophic fibers

•

en:affected muscles show atrophy

•

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

•

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

•

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

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal distribution of subcutaneous fat

•

en:'sloping' shoulders due to muscle atrophy

•

en:decreased mitochondrial complex v activity

•

en:depletion of mitochondrial dna

•

en:mri shows increased connective tissue and fat

•

en:hypoplasia of the hand muscles (29%)

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:marked lack of adipose tissue

•

en:lower limb atrophy

•

en:lower limbs more affected than upper limbs

•

en:loss of subcutaneous fat

•

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

•

en:loss of adipose tissue occurs around puberty

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:hypoplasia of cervical paravertebral muscles

•

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

•

en:humeroperoneal weakness and atrophy

•

en:head drop due to neck muscle weakness

•

en:haemorrhage subcutaneous

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:gowers sign

•

en:facial muscle atrophy

•

en:extensive fatty infiltration on biopsy

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

en:finger and wrist extensor weakness

•

en:wrist swelling

•

en:muscle weakness

•

en:necrotic fibers

•

en:myotonia

•

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

•

en:muscle weakness of limb

•

en:muscle weakness is not a feature

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness (in some patients)

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle mri shows fatty infiltration

•

en:normal neonatal period may occur before weakness is apparent

•

en:muscle hypertrophy may occur

•

en:muscle fiber splitting

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle biopsy shows chronic and active denervation

•

en:nemaline bodies

•

en:normal or increased abdominal adipose tissue

•

en:muscle atrophy, diffuse, severe

•

en:slowly progressive limb-girdle myopathy

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:unable to walk

•

en:type 2 fiber predominance

•

en:tubular aggregates seen on biopsy

•

en:trunk muscle atrophy

•

en:tibialis anterior muscle affected

•

en:thigh hypertrophy

•

en:subsarcolemmal mitochondrial accumulation

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:no muscle fiber necrosis

•

en:severe disability within 20 years of onset

•

en:secondary myopathic features

•

en:scapuloperoneal amyotrophy

•

en:relative sparing of the rectus femoris

•

en:reduced subcutaneous adipose tissue

•

en:red-ragged fibers (2p21del)

•

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

•

en:progressive proximal muscle involvement

•

en:painful swelling in aponeuroses

•

en:muscle biopsy shows abnormal mitochondria

•

en:upper limb muscle hypoplasia

•

en:multiple mitochondrial dna deletions

•

en:decreased muscle bulk

•

en:emg shows myopathic or neurogenic changes

•

en:edema limbs

•

en:edema, generalized

•

en:distal muscle weakness occurs later

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal lower limb amyotrophy

•

en:disorganization of the neuromuscular junction

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

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

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased endplate potential and amplitudes

•

en:decreased coenzyme q10

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:deafferentation

•

en:congenital fiber-type disproportion

•

en:calf hypertrophy (in some patients)

•

en:atrophy, mild (in some cases)

•

en:mitochondrial myopathy

•

en:emg shows neurogenic changes consistent with denervation

•

en:distal amyotrophy (hands and feet)

•

en:exercise-induced muscle stiffness

•

en:hypotonia, axial, severe

•

en:exercise-induced weakness

•

en:lower limb muscle hypotrophy

•

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

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:increased variation in fiber size seen on muscle biopsy

•

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

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:inclusions are dnajb6-immunoreactive

•

en:increased lipid droplets and abnormal mitochondria

•

en:hypothenar muscle atrophy

•

en:hang weakness

•

en:fat accumulation in the suprabuttock area

•

en:hypertonia at birth

•

en:generalized muscular appearance from birth

•

en:gait, drop foot

•

en:hematoma

•

en:hyperactive deep tendon reflexes

•

en:lymphedema of lower limbs (in some patients)

•

en:lymphangiectasia

•

en:muscle weakness, primarily proximal

•

en:no dystrophic changes

•

en:neurogenic changes seen on emg and biopsy

•

en:necrotic change

•

en:myxedematous appearance

•

en:myopathy with abnormal lipid metabolism

•

en:myalgia (in some patients)

•

en:muscle biopsies show variation in fibrodiameter, internal nuclei, atrophy of type i fibers, focal loss of cross- striations, and cores of myofibrillar disruption with associated absence of mitochondria

•

en:muscle wasting in lower limbs

•

en:muscle fibers appear as fetal myotubules

•

en:muscle fatigability

•

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

•

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

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:potassium sensitivity has been reported

•

en:no muscle weakness

•

en:type 2 fiber hypertrophy

•

en:preservation of visceral, neck, and axillary fat pads

•

en:shoulder muscle hypoplasia

•

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

•

en:tubulofilamentous nuclear or cytoplasmic inclusions (15-18 nm)

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:triceps weakness

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:sparing of the anterior tibial compartment

•

en:small rounded fibers

•

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

•

en:sarcoplasmic inclusions

•

en:prominent muscular appearance

•

en:rhabdomyolysis (in some patients)

•

en:redundancy of basal lamina with accumulated debris

•

en:reduced lower limb subcutaneous fat

•

en:rare necrotic fibers

•

en:ragged red fibers (in some patients)

•

en:quadriceps aplasia

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:proximal muscle weakness in upper limbs

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:muscle atrophy later in the disease

•

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

•

en:muscle atrophy

•

en:decreased shank muscle mass

•

en:dystrophic features

•

en:distal muscle weakness may occur

•

en:distal muscle atrophy due to denervation

•

en:distal limb muscle weakness occurs later

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal limb atrophy (upper and lower)

•

en:delayed ambulation

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased muscle succinate dehydrogenase

•

en:edema of dorsum of hands and feet

•

en:decreased muscle mass (especially of limbs)

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:coenzyme q10 deficiency

•

en:areflexia due to muscle weakness

•

en:absence of merosin in muscle

•

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

•

en:abnormal aggregates of desmin and filamin c

•

en:usually a unilateral disorder

•

en:edema, subcutaneous, generalized

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:increased muscle tone (early in life)

•

en:marked muscular hypertrophy

•

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

•

en:lymphedema of the extremities

•

en:lipid droplet accumulation

•

en:limb muscular atrophy

•

en:limb-girdle muscle weakness (2 families)

•

en:involves upper and lower proximal muscles

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased fiber size variability

•

en:emg shows chronic denervation

•

en:inability to run

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:generalized muscle weakness, proximal and distal

•

en:generalized hypotonia

•

en:fiber type variation seen on biopsy

•

en:fat pad between achilles tendon and medial malleolus

•

en:fatty infiltration seen on muscle biopsy

•

en:fasciculations (less common)

•

en:exercise-induced myalgia

•

en:upper limb involvement occurs later or not at all

•

en:gowers sign (in some patients)

•

en:absence of collagen vi immunostaining

•

en:aggregates contain granular electron-dense material

•

en:postexercise cmap amplitude facilitation

•

en:poor muscle build

•

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

•

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

•

en:pain or cramping during sustained manual activity

•

en:onset of weakness in hands and feet

•

en:numerous vacuole-like areas

•

en:no myofibrillar abnormalities or protein aggregation

•

en:neonatal hypertonias

•

en:proximal muscle weakness (85% of patients)

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:myopathy

•

en:myopathic changes seen on biopsy

•

en:muscular hypotonia of the trunk

•

en:muscle weakness lower limb

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits

•

en:prominent musculature

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:muscle biopsy shows decreased secondary clefts

•

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

•

oedème de la face

•

en:weakness of neck muscles may occur later

•

en:virtually no active movement at birth (wws)

•

en:variation of myofiber diameter

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

en:variable fiber size

•

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

•

en:vacuolar degeneration

•

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

•

en:pyruvate oxidation defect

•

en:tendon tears

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:subcutaneous fat markedly reduced

•

en:shoulder weakness and atrophy

•

en:severe muscle hypotonia at birth

•

en:scapuloperoneal weakness

•

en:rimmed vacuoles with basophilic granular material

•

en:respiratory distress (congenital form)

•

en:rectus fascia separation

•

en:muscle biopsy shows lipid deposition

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:decreased cytochrome c oxidase activity

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

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

•

en:difficulty running

•

en:difficulty in toe walking

•

en:deltoid muscle hypoplasia

•

en:delayed motor development (cvs+)

•

en:decreased numbers of type 2b fibers

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased coenzyme q10 levels in muscle

•

en:distal myopathy (in 1 family)

•

en:muscle aches, intermittent

•

en:decreased activity of complexes ii+iii

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:bulbar weakness

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy of type 1 and type 2 fibers

•

en:angular atrophic fibers

•

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

•

en:distal muscle weakness and atrophy

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:edema at birth

•

en:hypotonia, truncal and appendicular

•

en:emg shows fasciculations

•

en:mitochondrial paracrystalline inclusion bodies

•

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

•

en:mild distal muscle atrophy

•

en:may have proximal muscle weakness later in the disease

•

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

•

en:infantile muscular hypotonia

•

en:inability to sit or hold head up

•

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

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of muscle

•

en:generalized muscle hypertrophy

•

en:fibromyalgia

•

en:fatty infiltration of affected muscles

•

en:facial diplegia

•

en:exercise intolerance (less common)

•

en:exercise-induced muscle cramps

•

en:hyporeflexia of lower limbs

•

en:evidence of lymphatic rerouting

•

en:shortening of various muscle-tendon groups in legs

•

en:slim, muscular build (in some patients)

•

en:skeletal muscle biopsy shows misplaced mitochondria

•

en:skeletal muscle biopsy shows fat droplets in sarcoplasm and mitochondria

•

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

•

en:proximal muscle atrophy (in some patients)

•

en:reduced muscle tone but normal power

•

en:quadriceps muscle spared

•

en:proximal muscle weakness (occasional)

•

en:proximal muscles may be mildly affected

•

en:some patients become wheelchair-dependent

•

en:soft tissue or tendinous calcinosis may occur

•

en:walking delay

•

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

•

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

•

en:swelling of the affected areas

•

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

•

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

•

en:thickened subcutaneous tissue

•

en:tubular aggregates mainly in type 1 fibers

•

en:type 1 fiber predominance

•

en:ubiquinone decreased

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

oedème facial

•

oedème du visage

•

en:proximal limb muscle weakness initially

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119932 • caches: c1=52 c2=3296 c3=639

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