Le Diko - en:muscle biopsy shows myofibrillar changes

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Le Diko - en:muscle biopsy shows myofibrillar changes

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le dictionnaire d'associations lexicales
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en:muscle biopsy shows myofibrillar changes

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:usually no myopathic changes on biopsy

•

en:shoulder muscle weakness (in some patients)

•

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

•

en:absence of muscle pseudohypertrophy

•

en:decreased activities of complexes i and iv

•

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

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:myopathic changes seen on emg and muscle biopsy

•

en:decreased postsynaptic achr

•

en:decreased shank muscle mass

•

en:minipolymyoclonus

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

•

en:polyglucosan accumulation

•

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

•

en:stiffness (uncommon)

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

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

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:quadriceps aplasia

•

en:decreased muscle succinate dehydrogenase

•

en:anterior tibial muscles first involved

•

en:giant granules in muscle cells

•

en:nerve conduction studies normal

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:ragged-red muscle fibers

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:emg shows myopathic or neurogenic changes

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:mitochondrial dna deletions (in some patients)

•

en:marked muscular hypertrophy

•

en:glycogen accumulation seen on biopsy

•

en:denervation of skeletal muscles

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:biopsy shows defects in pyruvate oxidation

•

en:atrophic fibers

•

en:myopathy seen on emg

•

en:muscle biopsy shows myofibrillar myopathy

•

en:progressive loss of facial adipose tissue

•

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

•

en:weakness of neck muscles may occur later

•

en:'hanging' big toe

•

en:abdominal muscle hypoplasia

•

en:decreased or absent ankle reflexes

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:hyperactive deep tendon reflexes

•

en:many fibers with internal nuclei

•

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

•

en:shortened open achr channel duration

•

en:proximal muscle weakness (occasional)

•

en:type 2 muscle fiber atrophy

•

en:proximal muscle weakness, less severe

•

en:cranial muscles spared

•

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

•

en:decreased numbers of achr

•

en:neonatal hypertonias

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:dystrophic changes occur later

•

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

•

en:muscle biopsy shows loss of type 2a fibers

•

en:exercise intolerance (less common)

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:type 2 fiber hypertrophy

•

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

•

en:increased falls

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle hypertrophy (meb)

•

en:virtually no active movement at birth (wws)

•

en:forearm muscle weakness

•

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

•

en:distal lower limb anterior compartment weakness

•

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

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:muscle cramps, painful, recurrent

•

en:quadriceps weakness

•

en:absence of merosin in muscle

•

en:increased endomysial connective tissue around muscle fibers

•

en:hamstring muscle affected

•

en:myalgia (in some patients)

•

en:myopathy, myofibrillar, zasp-related

•

en:thenar eminence hypoplasia

•

en:reduced muscle mass

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:muscle weakness begins proximally

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy, primarily in the legs

•

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

•

en:cellulitis due to immunodeficiency

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:dependent edema after excess fat has been present for several years

•

en:dystrophic changes, mild, seen on muscle biopsy

•

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

•

en:mri shows fatty infiltration of affected muscles

•

en:vacuoles are autophagocytic

•

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

•

en:emg - repetitive muscle discharges

•

en:hypoplasia of muscle

•

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

•

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

•

en:muscle weakness (in some patients)

•

en:vacuolar myopathy may occur

•

en:proximal muscle weakness occurs later

•

en:buffalo hump (rare)

•

en:tubular aggregates seen on biopsy

•

en:swelling of the extremities, episodic

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:muscles have a woody consistency on palpation

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

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

•

en:absence of necrosis

•

en:decreased activity of complexes ii+iii

•

en:calf hypertrophy (less common)

•

en:increased mitochondria with abnormal cristae

•

en:decreased muscle mass (in some patients)

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:variation in skeletal muscle fiber diameter

•

en:degenerate mitochondrial on em

•

en:neuropathic process seen on muscle biopsy

•

en:muscle wasting (especially legs and arms)

•

en:muscle pain after exercise

•

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

•

en:lymphedema of the hands (in some patients)

•

en:hypotonia, generalized, severe

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

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

•

en:emg shows myopathic and neurogenic changes

•

•

en:large lipid droplets

•

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

•

en:myositis (in some patients)

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:loss of sarcomeric striations

•

en:decreased achr at the endplate

•

en:increased variation in muscle fiber diameter

•

en:hypotonia (45%)

•

en:difficulty standing

•

en:acquired partial lipodystrophy

•

en:abnormal aggregation of mitochondria

•

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

•

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

•

en:muscle fiber atrophy, profound (rare)

•

en:weakness of all intrinsic hand muscles (later)

•

en:leg cramps may occur with exercise

•

en:abnormal jitter seen on emg

•

en:z-disks with abnormal homogeneous material

•

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

•

en:muscle pain and cramps following exercise

•

en:muscle biopsy shows centralized nuclei

•

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

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased echo intensity in affected muscles

•

en:hypotonia (patient a)

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:attacks may present during or after sleep

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:lymphedema (lower limb)

•

en:muscle weakness

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle strength and bulk is preserved

•

en:muscle pain following exercise (in some patients)

•

en:muscle fibers contain internal nuclei

•

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

•

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

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows atrophy

•

en:muscle atrophy, limb-girdle and proximal

•

en:mitochondria show paracrystalline inclusions

•

en:mitochondrial myopathy, severe

•

en:mild distal muscle atrophy

•

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

•

en:myofibrillar disintegration

•

en:subsarcolemmal mitochondrial accumulation

•

en:myogenic changes seen on emg

•

en:relatively preserved limb strength

•

en:thigh hypertrophy

•

en:thenar muscle atrophy

•

en:superior rectus atrophy

•

en:limb-girdle muscle atrophy

•

en:small miniature endplate potentials (mepp)

•

en:skeletal muscle biopsy shows reducing bodies

•

en:shortening of various muscle-tendon groups in feet

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:rupture of tendon

•

en:rimmed vacuoles

•

en:reduced muscle bulk

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:rectus abdominis muscle separation

•

en:ragged red fibers seen on biopsy

•

en:progressive proximal muscle weakness

•

en:poor muscle bulk

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:no muscle fiber necrosis

•

en:normal or increased adipose tissue around the neck

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:myopathic pattern on emg

•

en:loss of ambulation

•

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

•

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

•

en:buffalo hump

•

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

•

en:decreased lipoic acid

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of mitochondrial complexes i and iv

•

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

•

en:cytochrome c oxidase-negative fibers

•

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

•

en:chronic denervation/reinnervation seen on emg

•

en:central cores seen on muscle biopsy

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:decreased muscle density on imaging

•

en:attacks last 4 to 24 hours

•

en:atrophy of type i fibers

•

en:ankle clonus

•

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

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal jitter

•

en:abnormal iron deposition in mitochondria

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:abdominal wall muscle weakness (later onset)

•

en:type ii fiber predominance

•

en:decreased mitochondrial respiratory chain enzyme activity (patient b)

•

en:degenerative features seen on muscle biopsy

•

en:increased numbers of type 1 fibers

•

en:gait abnormality

•

en:increased lysosomal glycogen

•

en:increased glycogen

•

en:increased fatigability

•

en:impaired toe-walking

•

en:hypotonia, neonatal and later

•

en:hypotonia, axial, severe

•

en:hyporeflexia or areflexia

•

en:hypoplasia of cervical paravertebral muscles

•

en:generalized muscle weakness, proximal and distal

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:fatty infiltration seen on muscle biopsy

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:facial muscle weakness and atrophy, progressive

•

en:facial diplegia

•

en:endplate abnormalities

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

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

•

•

en:disuse atrophy

•

en:disruption of the m-line

•

en:difficulty walking and climbing stairs

•

en:difficulty raising arms

•

en:tortuous lymphatic tracts

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:unable to walk

•

en:muscle fiber immaturity

•

en:necrotic changes (finding)

•

en:myxedematous appearance

•

en:myopathy with abnormal lipid metabolism

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes early in disease seen on emg

•

en:muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)

•

en:muscle weakness, severe

•

en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)

•

en:muscle rigidity

•

en:muscle fiber regeneration

•

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

•

en:nemaline rods (in some patients)

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy (type i)

•

en:muscle atrophy, mild

•

en:muscle atrophy, diffuse, severe

•

en:mitochondrial dna deletion (1 patient)

•

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

•

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

•

en:lymphangitis, episodic

•

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

•

en:limb weakness, proximal followed by distal

•

en:nemaline bodies are rarely intranuclear

•

en:nemaline rods may be observed

•

en:isolated necrotic fibers

•

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

•

en:wide variation in fiber size

•

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

•

en:variable fiber size

•

en:velopharyngeal muscle weakness

•

en:tubular aggregates (in some patients)

•

en:triceps aplasia

•

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

•

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

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:signs of denervation seen on biopsy

•

en:reduced muscle tone

•

en:neurogenic atrophy

•

en:red-ragged fibers (2p21del)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal amyotrophy

•

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

•

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

•

en:progression to proximal muscle weakness

•

en:poor development of the postsynaptic membrane

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:no lipodystrophy in face and neck

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:limb-girdle muscle weakness

•

en:umbilical cord bleeding

•

en:involves upper and lower proximal muscles

•

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

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased distal reflexes

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of respiratory complex ii+iii

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:cytoplasmic inclusion bodies (finding)

•

en:congophilic inclusions

•

en:congenital absence of gluteal muscles

•

en:centralized myonuclei

•

en:difficulty walking up stairs

•

en:biceps brachii atrophy

•

en:benign soft tissue developmental anomalies

•

en:attacks precipitated by cold temperature

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:asymmetric muscle involvement

•

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

•

en:absence of gamma-sarcoglycan protein

•

en:weak extraocular muscles

•

en:intranuclear inclusions (1 family)

•

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

•

en:delayed ambulation

•

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

•

en:distal limb muscle weakness, lower more than upper

•

en:haemorrhage subcutaneous

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:inability to stand or walk (in severe cases)

•

en:impaired mitochondrial respiration

•

en:hypotonia, severe, persistent

•

en:hypotonia, profound

•

en:hypothenar muscle atrophy

•

en:hypoplasia of infraspinatus muscle

•

en:hip abductor weakness and atrophy

•

en:increased fiber size variability

•

en:gowers sign (patient a)

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:distal lower limb amyotrophy

•

en:distal muscle atrophy due to neuropathy

•

en:glycogen deficiency in muscle fibers

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:increased intraabdominal fat

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:fatty replacement

•

en:flaccid weakness or paralysis, episodic attacks

•

en:exertional fatigue

•

en:muscle biopsy shows lipid deposition

•

en:poor head control in infancy

•

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

•

en:nonspecific muscle fiber atrophy

•

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

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:necrotic fibers

•

en:myopathic features seen on emg

•

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

•

en:muscle weakness, distal, particularly affecting the hands

•

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

•

en:muscle weakness, mainly proximal and axial

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle biopsy shows type i fiber predominance

•

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

•

en:muscle biopsy shows rimmed vacuoles

•

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

•

en:muscle biopsy shows no dystrophic changes

•

en:predominance of oxidative fibers

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle hypertrophy in affected area

•

en:tremors subside over the first 2 to 3 months of life

•

en:progressive interictal weakness is common

•

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

•

en:atrophic muscle fiber on biopsy

•

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

•

•

en:amorphous granulofilamentous material associated with z-discs

•

en:acetazolamide may worsen symptoms

•

en:absence of myotonia in infancy (congenital form)

•

en:abnormal muscle tone

•

en:muscle soft, tissue

•

en:z-band streaming

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:prolonged miniature endplate currents

•

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

•

en:upper limb involvement occurs later or not at all

•

en:tetanus-like muscle contractions

•

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

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:small or absent axon terminals

•

en:small atrophic fibers (in some patients)

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:pseudohypertrophy of muscle

•

en:prominent veins, lower limbs

•

en:muscle biopsy shows dystrophic features

•

en:facial muscle atrophy

•

en:lymphangiectasia

•

en:decreased activity of respiratory complex i+iii

•

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

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal muscle atrophy, lower legs

•

en:distal limb muscle weakness (less common)

•

en:delayed motor development (cvs+)

•

en:deep finger muscle weakness

•

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

•

en:enlarged mitochondria

•

en:cox-depleted fibers

•

en:congenital, nonprogressive myopathy

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophy, neurogenic muscular

•

•

•

en:amyotrophy affects c5 to t1 myotomes

•

en:absence of some scapular muscles (less common)

•

en:'sloping' shoulders due to muscle atrophy

•

en:atrophy of shins

•

en:emg shows increased insertion activity and fibrillation

•

en:exercise-induced myalgia

•

en:loss of achr

•

en:imaging shows progressive fatty infiltration of muscle

•

en:lipid droplet accumulation

•

en:limb muscular atrophy

•

en:limb muscle weakness, proximal, upper and lower

•

en:internal nuclei (in some patients)

•

en:increased lipid

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:increased fibrosis (in some patients)

•

en:increased fatty and connective tissue in skeletal muscle

•

en:inclusion body myopathy

•

en:hypotonia at birth

•

en:familial generalized lipodystrophy

•

en:hypertonicity of the lower limbs

•

en:hypertonia at birth

•

en:humeroperoneal weakness and atrophy

•

en:heterotopic bone formation in subcutaneous fat

•

en:hamstring and quadriceps muscles mildly affected

•

en:generalized weakness (adult-onset)

•

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

•

en:focal loss of cross striations seen on muscle biopsy

•

en:fiber type variation seen on biopsy

•

en:fasciculations (less common)

•

en:atrophy, mild (in some cases)

•

en:muscle hypertrophy of the lower extremities

•

en:atrophy of type 1 and type 2 fibers

•

en:muscle weakness and atrophy, proximal

•

en:no muscle weakness

•

en:normal or increased truncal adipose tissue

•

en:neurogenic changes later in disease seen on emg

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

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

•

en:myopathy, mild to severe

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myofibromatosis

•

en:muscle weakness of proximal and distal upper and lower limbs

•

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

•

en:pectoralis major hypoplasia

•

en:muscle pain (in some patients)

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:mtdna depletion seen on muscle biopsy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:pelvic muscle involvement occurs later

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:shortened open channel duration

•

en:atrophy of upper girdle muscles

•

en:weakness worsened by activity

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:upper limb muscle hypoplasia

•

en:umbilical hernia

•

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

•

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

•

en:swelling of the affected areas

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:severely decreased or absent lamp2 protein

•

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

•

en:scapuloperoneal amyotrophy

•

en:reduced subcutaneous adipose tissue

•

en:recovery between attacks

•

en:pyruvate oxidation defect

•

en:proximal weakness

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal limb muscle weakness initially

•

en:proximal and distal muscle atrophy in lower limbs

•

en:progressive proximal muscle involvement

•

en:primarily affects lower limbs

•

en:motor clumsiness

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

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

•

en:degenerative changes with increased connective tissue

•

en:facial muscle atrophy of involved side

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:emg shows myopathic features

•

en:distal muscle weakness occurs later

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle atrophy, predominantly lower limbs

•

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

•

en:difficulty in toe walking

•

en:deglutition disorders

•

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

•

en:gait abnormalities (occurs later)

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased postsynaptic folding at the neuromuscular junction

•

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

•

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

•

en:casq1-immunopositive inclusions

•

en:calf hypertrophy (uncommon)

•

en:calf hypertrophy (early in the disease)

•

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

•

en:biopsy shows dystrophic changes

•

en:mitochondrial complex i deficiency

•

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

•

en:centralized nuclei may be seen

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:increased variability of fiber size seen on muscle biopsy

•

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

•

en:histochemically normal type-ii muscle fibers

•

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

•

en:lower limbs more affected than upper limbs

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:localized cellulitis

•

en:lack of antigravity movements (patient b)

•

en:internal nuclei

•

en:loss of subcutaneous fat, diffuse

•

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

•

en:increased focal mitochondrial density

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:hypotrophy of the small hand muscles

•

en:inability to jump or squat

•

en:hypotonia from birth to age 12

•

en:increased fatigue

•

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

•

en:increased length of endplate regions seen on muscle biopsy

•

en:increased muscle tone in the lower limbs

•

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

•

en:nonspecific myopathy seen on biopsy

•

en:neurogenic changes

•

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

•

en:myotonia is present in majority of cases

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathic changes seen on biopsy

•

en:myofibril destruction (in some patients)

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle weakness, severe, axial and proximal predominance

•

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

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows dystrophic pattern

•

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

•

en:muscle atrophy later in the disease

•

en:paralysis of the lower limbs (later)

•

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

•

en:muscle amyotrophy

•

en:numerous vacuole-like areas

•

en:respiratory distress (congenital form)

•

en:pelvic girdle weakness and atrophy

•

en:severe disability within 20 years of onset

•

en:symmetrical muscle wasting

•

en:mri shows increased connective tissue and fat

•

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

•

en:some abnormal aggregation of mitochondria

•

en:small round skeletal muscle fibers

•

en:small endplate

•

en:severe muscle hypotonia at birth

•

en:rimmed vacuoles with basophilic granular material

•

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

•

en:reduced subcutaneous fatty tissue

•

en:reduced postsynaptic cleft area

•

en:reduced muscle strength (in some patients)

•

en:proximal muscles more often affected

•

en:proximal lower limb amyotrophy

•

en:proximal limb muscle weakness (occurs later)

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved junctional structure seen on muscle biopsy

•

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

•

en:difficulty walking, running

•

en:mildly increased mtdna

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

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

•

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

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle mass (especially of limbs)

•

en:decreased expression of the vdac1 protein

•

en:decreased cytochrome c oxidase activity

•

en:decreased adipose tissue around neck

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:emg shows fasciculations

•

en:carpopedal spasm

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:bilateral facial weakness (congenital form)

•

en:attacks usually decrease or disappear after age 40 years

•

en:accumulation of abnormal mitochondria

•

en:abnormal z bands

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:upper and/or lower limbs may be affected

•

en:edema, generalized

•

en:emg shows polyphasic continuous motor unit discharges

•

en:lymphedema of lower extremity

•

en:impaired heel-walking

•

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

•

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

•

en:loose connective tissue

•

en:lack of facial subcutaneous fat

•

en:intracellular granular osmiophilic deposits

•

en:increased centralized internal nuclei

•

en:inability to run

•

en:hypotrophy of type 1 fibers

•

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

•

en:hypotonia, neonatal, severe (hcs)

•

en:gowers sign present

•

en:generalized muscular appearance from birth

•

en:generalized muscle weakness

•

en:fiber type grouping

•

en:fiber-type grouping pattern

•

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

•

en:extensor finger muscle weakness

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:ankle edema (finding)

•

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

•

en:muscle fatigue

•

en:muscle weakness, variable

•

en:muscle weakness, limb-girdle, mild

•

en:muscle stiffness or aching

•

en:muscle hypertrophy may occur

•

en:muscle hypertonia

•

en:muscle fiber splitting (in some patients)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy with small a-fibers, increased pas-positive material, and ringbinden (disoriented myofibrils)

•

en:myotonic discharges

•

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

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

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

•

en:muscle atrophy, severe

•

en:mild endplate myopathy

•

•

en:myofibroma (in 1 patient)

•

en:nonspecific myopathic changes

•

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

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:weakness of anterior compartment tibial muscles

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:vacuolar degeneration

•

en:type 1 fiber predominance

•

en:toe and foot dorsiflexor weakness

•

en:tibialis anterior muscle affected

•

en:thickening of fascia of forearm

•

en:redundancy of basal lamina with accumulated debris

•

en:normal mitochondrial morphology (1 patient)

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:proximal muscle weakness

•

en:progressive distal and proximal symmetric limb weakness

•

en:preserved nerve terminals seen on muscle biopsy

•

en:preserved junctional folds

•

en:poor sarcomeric structure (in some patients)

•

en:peroneal muscle atrophy

•

en:nuclear clumps

•

en:lipid storage, mainly in type i fibers

•

en:muscle weakness, proximal, slowly progressive

•

en:inguinal hernia

•

en:bilateral foot drop

•

en:disorganized myofilaments seen on muscle biopsy

•

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

•

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

•

en:decreased quantal release

•

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

•

en:cox-deficient fibers

•

en:chronic weakness

•

en:autophagic rimmed vacuoles

•

en:distal limb muscle atrophy, lower more than upper

•

en:arm/shoulder muscle hypoplasia

•

en:areflexia due to muscle weakness

•

en:abnormal size and shape of synaptic endplates

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal irregular myofibrillar network

•

en:abnormal distribution of subcutaneous fat

•

en:increased visceral fat

•

en:variation of fiber size and shape

•

en:distal atrophy of the legs

•

en:waddling gait

•

en:distal limb muscle weakness and atrophy

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:distal lower limb muscle weakness

•

en:increased fibrosis (family a)

•

en:inability to sit or hold head up

•

en:hypotonia, infantile, severe

•

en:hypoplasia of supraspinatus muscle

•

en:gait unsteady

•

en:filamentous inclusions in muscle fibers

•

en:fibrillation

•

en:increased connective tissue and fat

•

en:exercise-induced weakness

•

en:endomysial fibrosis

•

en:emg shows myopathic pattern

•

en:emg shows denervation

•

en:edema, subcutaneous, generalized

•

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

•

en:evidence of lymphatic rerouting

•

en:distal muscle weakness

•

en:loss of facial adipose tissue

•

en:necrotic and regenerating muscle fibers

•

en:myopathy (rare)

•

en:myasthenic syndrome (hcs)

•

en:myalgia with febrile episodes (rare)

•

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

•

en:muscle weakness (in 90% of patients)

•

en:muscle stiffness (in older patients)

•

en:muscle atrophy, upper and lower limbs

•

en:muscle shows lipid accumulation

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

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

•

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

•

•

en:multi-core congenital myopathy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:neuropathic or myopathic changes seen on emg

•

en:loss of independent ambulation around age 12 years

•

en:nemaline rods (rare)

•

en:proximal muscle weakness, lower limbs, mild

•

en:normal muscle fiber (hcs)

•

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

•

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

•

en:tendinous and tuberous xanthoma

•

en:some patients never achieve ambulation

•

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

•

en:scapular muscle weakness

•

en:repetitive response to single nerve stimulation

•

en:reduced lower limb subcutaneous fat

•

en:rare necrotic fibers

•

en:normal phosphorylase kinase activity in muscle

•

en:proximal muscle weakness in upper limbs

•

en:progressive distal muscle weakness

•

en:polymyositis

•

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

•

en:pectoralis hypoplasia

•

en:patchy muscle fiber degeneration

•

en:paracrystalline inclusions

•

en:normal sensation

•

en:infantile axial hypotonia

•

en:abnormal fatigue

•

en:increased variability in muscle fiber diameter

•

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

•

en:decreased thiamine pyrophosphate

•

en:decreased secondary clefts

•

en:decreased endplate potential and amplitudes

•

en:decreased atp production

•

en:congophilic amyloid material

•

en:centrally located nuclei seen on muscle biopsy

•

en:centralized nuclei, rare

•

en:axial weakness

•

en:disorganization of the neuromuscular junction

•

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

•

en:amyotrophy, neurogenic

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:affected muscles show atrophy

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal mitochondrial proliferation

•

en:abnormal mitochondria

•

en:tubular aggregates in muscle fibers may occur

•

en:degeneration of junctional folds

•

en:disruption plasma membrane (in some patients)

•

en:increased muscle glycogen content

•

en:gluteus maximus and thigh adductors most affected

•

en:increased intramuscular fat

•

en:increased central nucleation

•

en:hypotrophic type 2 muscle fibers

•

en:hypotonia, mild

•

en:hyporeflexia in affected muscles

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:hip flexor weakness

•

en:group fiber atrophy (in some patients)

•

en:generalized amyotrophy

•

en:distal leg muscle atrophy

•

•

en:finger and wrist extensor weakness

•

en:fatty infiltration

•

en:edematous hands and feet (1 patient)

•

en:dystrophic features

•

en:distal muscle weakness may occur

•

en:distal muscle weakness, occurs initially

•

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

•

en:thin musculature

•

en:subsarcolemmal mitochondrial aggregates

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

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

•

en:pelvic girdle weakness

•

en:panniculitis

•

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

•

en:neurogenic changes seen on emg and biopsy

•

en:neurogenic atrophy seen on muscle biopsy

•

en:neonatal edema (in some patients)

•

en:necrotic and atrophic fibers with centralized nuclei

•

•

en:prominent musculature

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic and neurogenic changes seen on emg

•

•

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

•

en:muscle weakness in forearm muscles

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, congenital

•

en:postexercise cmap amplitude facilitation

•

en:proximal muscle atrophy (in some patients)

•

en:muscle cramp

•

en:superficial rerouting of lymph through the skin

•

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

•

en:z-disk streaming

•

en:weakness of the intrinsic hand muscles (in some patients)

•

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

•

en:walking delay

•

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:subcutaneous edema

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:shoulder weakness

•

en:shoulder girdle muscle atrophy

•

en:rimmed vacuoles on biopsy

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:quadriceps atrophy

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:muscle fibers may contain abnormal polysaccharide

•

en:quadriceps muscle spared

•

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

•

en:coenzyme q10 deficiency

•

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

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

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

•

en:diastasis recti

•

en:decreased mitochondrial complex v activity

•

en:decreased exercise tolerance

•

en:congophilic deposits

•

en:axial hypotonia (in some patients)

•

en:easy fatigability with exercise

•

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

•

en:amyotrophy (1 patient)

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:absence of telethonin protein

•

en:abnormal axons with sprouting and swelling

•

en:abnormal aggregates of desmin and filamin c

•

en:muscle biopsy shows lipid droplets

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:dystrophic skeletal muscle seen on biopsy

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:edema of hands and feet (in some patients)

•

•

en:muscle biopsy shows dystrophic features (later in disease course)

•

en:emg shows neurogenic changes consistent with denervation

•

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

•

en:minicores or core-like regions may be present

•

en:minicores (in some)

•

en:loss of ambulation (in some patients)

•

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

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:increased connective tissue

•

en:hypotonia, neonatal (in some patients)

•

en:hypertonicity (uncommon)

•

en:hypertonia in infancy

•

en:hyaline inclusion

•

en:hip girdle muscle atrophy

•

en:hematomas, recurrent large subcutaneous

•

en:generalized neonatal hypotonia

•

en:eosinophilic inclusions

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:decremental cmap response to repetitive nerve stimulation

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:denuded postsynaptic regions

•

•

en:cox-negative fibers

•

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

•

en:decreased achr

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:chronic fatigable muscles

•

en:central nuclei

•

en:distal muscle atrophy due to denervation

•

en:emg consistent with chronic neurogenic disorder

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:distal muscle weakness, upper and lower limbs

•

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

•

en:distal myopathy (in 1 family)

•

en:dystrophic changes

•

en:edema is present at birth and then slowly decreases

•

en:edema reoccurs with infections

•

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

•

en:emg may showed myotonic discharges

•

en:emg shows fibrillations

•

en:enlarged nuclei with central pallor

•

en:calf muscle weakness

•

en:exercise-induced muscle cramps

•

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

•

en:prolonged endplate currents

•

en:calf muscle hypoplasia

•

en:ragged-red fibers seen on muscle biopsy

•

en:fat pads on the hands and feet

•

en:normal or decreased facial and neck adipose tissue

•

en:no facial muscle involvement

•

•

en:poor exercise tolerance

•

en:postsynaptic abnormalities

•

en:premature exertional muscle weakness

•

en:proximal and distal muscle atrophy

•

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

•

en:proximal muscle weakness, mild

•

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

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:calf muscle enlargement

•

en:secondary loss of sarcolemmal caveolin-3

•

en:secondary myopathic features

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:type 1 muscle fiber predominance

•

en:type 2 fiber predominance

•

en:umbilical depression

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:walking may be limited

•

en:z-disk degeneration

•

en:adiposis on mri

•

en:facial paresis

•

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

•

en:fiber necrosis

•

en:small type ii fibers

•

en:poor muscle build

•

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

•

en:prolonged achr channel opening episodes

•

en:proximal muscles may be mildly affected

•

en:rectus fascia separation

•

en:reduced ankle dorsiflexion

•

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

•

en:replacement of myofibers with connective tissue

•

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

•

en:secondary myopathic changes

•

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

•

en:swelling of the hands and feet, episodic

•

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

•

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

•

en:thickened endplate basal lamina seen on muscle biopsy

•

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

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:tubular aggregates seen on muscle biopsy

•

en:weakness and wasting of the lower limbs

•

déficit en cytochrome-c oxydase

•

en:general paresis

•

lymphangiectasie

•

•

en:supraclavicular fat pads

•

en:pharyngeal muscle weakness

•

en:patients achieve independent ambulation, but may lose it

•

en:generalized muscle weakness, severe

•

en:muscle activity is electrically silent on emg

•

•

en:head drop due to neck muscle weakness

•

en:hypotonia (untreated hypothyroidism)

•

en:increased adipose fibrosis

•

en:increased fatty infiltration

•

en:lack of integrin alpha-7 staining

•

en:large hypertrophied fibers

•

en:limb lymphedema (in some patients)

•

en:mild weakness of the small hand muscles

•

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

•

en:muscle aches, cramps

•

en:muscle atrophy in the limbs

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

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

•

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

•

en:muscle weakness, episodic

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness may affect upper limbs

•

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

•

en:neurogenic changes seen on emg

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120064 • caches: c1=8 c2=1002 c3=1

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