Le Diko - en:dystrophic changes seen on skeletal muscle biopsy

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Le Diko - en:dystrophic changes seen on skeletal muscle biopsy

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en:dystrophic changes seen on skeletal muscle biopsy

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:type 1 fiber predominance

•

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

•

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

•

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

•

en:increased fiber size variability

•

en:increased focal mitochondrial density

•

en:mild weakness of the small hand muscles

•

en:lower limb atrophy

•

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

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:degenerative changes with increased connective tissue

•

en:inflammatory cells absent

•

en:muscle biopsy shows myofibrillar disruption

•

en:myogenic profile on electromyography

•

en:minipolymyoclonus

•

en:angular fibers (in some patients)

•

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

•

en:decreased glycosylation of alpha-dystroglycan

•

en:generalized muscle weakness, severe

•

en:gluteal hypoplasia

•

en:increased lipid droplets and abnormal mitochondria

•

en:independent walking may not be achieved

•

en:acute rhabdomyolysis

•

en:normal phosphorylase kinase activity in muscle

•

en:muscle weakness, limb-girdle, mild

•

en:percussion myotonias

•

en:myofibroma (in 1 patient)

•

en:muscle weakness, primarily proximal

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:muscle atrophy, progressive

•

en:hypertonia late

•

en:difficulty walking and climbing stairs (patient a)

•

en:decreased sarcolemmal immunostaining for ptrf

•

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

•

en:'hanging' big toe

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:emg shows high-frequency spontaneous discharges

•

en:loss of ambulation (in some patients)

•

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

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:nemaline rods (rare)

•

en:small atrophic fibers (in some patients)

•

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

•

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

•

en:difficulty climbing stairs, jumping, running

•

en:atrophic muscle fiber on biopsy

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:muscle atrophy, limb-girdle and proximal

•

en:variable fiber size

•

en:bilateral foot drop

•

en:nemaline rods may be observed

•

en:myopathy with abnormal lipid metabolism

•

en:recovery between attacks

•

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

•

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

•

en:gait, drop foot

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:disruption of sarcomeres with disorganization of the z band

•

en:shoulder muscle weakness (in some patients)

•

en:decreased secondary clefts

•

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

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:increased echo intensity in affected muscles

•

en:muscle weakness, proximal more than distal

•

en:peripheral edema

•

en:muscles become hard and tender during exercise

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:emg shows fibrillation potentials

•

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

•

en:focal loss of cross striations seen on muscle biopsy

•

en:limb-girdle muscular dystrophy

•

en:mild weakness

•

en:muscle weakness, congenital

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:edema at birth

•

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

•

en:decreased activities of complexes i and iv

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:easy fatigability with exercise

•

en:generalized hypotonia

•

en:mitochondrial paracrystalline inclusion bodies

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:distal muscle weakness, lower legs

•

en:generalized muscle weakness

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:proximal muscle weakness (occasional)

•

en:rectus fascia separation

•

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

•

en:cores or minicores

•

en:z-disks with abnormal homogeneous material

•

en:attacks may present during or after sleep

•

en:myotonic discharges in the absence of clinical myotonia seen on emg

•

en:proximal muscle weakness, mild (in some patients)

•

en:neonatal hypertonias

•

en:distal muscles may be affected

•

en:muscle hypertrophy

•

en:hyporeflexia of lower limbs

•

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

•

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

•

en:muscle weakness and atrophy, proximal

•

en:attacks relieved by potassium administration

•

en:hip flexor weakness

•

en:a subset of patients develop bilateral weakness

•

en:pelvic muscle involvement occurs later

•

en:increased subcutaneous truncal adipose tissue

•

en:rhabdomyolysis, episodic

•

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

•

en:dystrophic features

•

en:difficulty walking up stairs

•

en:decreased numbers of achr

•

en:pain or cramping during sustained manual activity

•

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

•

en:edema reoccurs with infections

•

en:emg consistent with chronic neurogenic disorder

•

en:macroglossia

•

en:mri may show cervical spinal cord atrophy

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle weakness, distal more than proximal

•

en:muscular dystrophy (in some patients)

•

en:vacuoles in the myofiber cytoplasm

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:denervation seen on emg

•

en:fiber size variation seen on biopsy (in some patients)

•

en:gait abnormality

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:mitochondrial dna depletion (in some)

•

•

en:neurogenic atrophy

•

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

•

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

•

en:reduced postsynaptic cleft area

•

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

•

en:impaired mitochondrial respiration

•

en:exercise-induced muscle cramps

•

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

•

en:distal limb muscle weakness occurs later

•

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

•

en:replacement of affected muscle tissue with fatty tissue

•

en:triceps weakness

•

•

en:finger and wrist extensor weakness

•

en:glycogen accumulation seen on biopsy

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:increased connective tissue and fat in muscles

•

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

•

en:loss of ambulation between third and sixth decade

•

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

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:shortening of various muscle-tendon groups in legs

•

en:muscle hypertrophy of the lower extremities

•

en:muscle biopsy shows nemaline rods

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle wasting due to chronic denervation

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:myalgia, episodic

•

en:muscle biopsy shows myofibrillar myopathy

•

en:thigh hypertrophy

•

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

•

en:muscle atrophy, mild

•

en:muscle aches, cramps

•

en:mitochondrial complex i deficiency

•

en:minicores or core-like regions may be present

•

en:mild endplate myopathy

•

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

•

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

•

en:low muscle mass

•

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

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myasthenic syndrome (hcs)

•

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

•

en:myopathic pattern seen on emg (in some patients)

•

en:proximal limb muscle weakness (occurs later)

•

en:tetanus-like muscle contractions

•

en:symptoms may be induced by heat

•

en:skeletal myopathy

•

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

•

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

•

en:rupture of tendon

•

en:rectus medial atrophy

•

en:limb weakness, proximal followed by distal

•

en:proximal muscle weakness, less severe

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:myopathy, nonprogressive

•

en:poor exercise tolerance

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal muscle fiber (hcs)

•

en:nemaline myopathy (in 1 reported male)

•

en:necrotic fibers

•

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

•

en:myotonia seen on emg

•

en:myositis (in some patients)

•

en:myopathy seen on emg

•

en:lipid storage, mainly in type i fibers

•

en:endomysial fibrosis

•

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

•

en:chronic denervation/reinnervation seen on emg

•

en:degenerating fibers

•

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

•

en:decreased size of nerve terminals seen on muscle biopsy

•

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

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of respiratory complex i+iii

•

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

•

en:cores extend along length of muscle fiber

•

en:cellulitis or infection may occur

•

en:degenerative features seen on muscle biopsy

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:attacks last 4 to 24 hours

•

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

•

•

en:accumulation of abnormal mitochondria

•

en:abnormal fatigue

•

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

•

en:abnormal aggregation of mitochondria

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:degeneration of junctional folds

•

en:delayed motor development (cvs+)

•

en:inguinal hernia

•

en:fiber necrosis

•

en:infantile muscular hypotonia

•

en:increased fibrosis (family a)

•

en:inclusion bodies seen on biopsy (in some patients)

•

•

en:hypotonia, neonatal (in some patients)

•

en:haemorrhage subcutaneous

•

en:granular deposits in the sarcomeres

•

en:fibrillation

•

en:fiber size variation (in some patients)

•

en:fat pad between achilles tendon and medial malleolus

•

en:denervation of skeletal muscles

•

en:exercise intolerance (less common)

•

en:emg shows myotonic changes

•

en:disuse atrophy

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal muscle atrophy, lower legs

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal limb muscle atrophy (less common)

•

en:disorganization of the neuromuscular junction

•

en:thickened subcutaneous tissue

•

en:distal muscle weakness due to neuropathy

•

en:tortuous lymphatic tracts

•

en:muscle biopsy shows neurogenic changes

•

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

•

en:muscle weakness, proximal and distal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, episodic

•

en:muscle pain with exercise (in older patients)

•

en:muscle pain and cramps following exercise

•

en:muscle pain after exercise

•

en:muscle hypertrophy (meb)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows dystrophic pattern

•

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

•

en:muscle atrophy later in the disease

•

en:mitochondrial myopathy, severe

•

en:minicores extend full fiber diameter

•

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

•

en:mild distal muscle atrophy

•

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

•

en:lymphedema (lower limb)

•

en:lower and upper limbs affected

•

en:loss of subcutaneous fat, generalized

•

en:myopathic changes seen on emg

•

en:nemaline bodies are rarely intranuclear

•

•

en:reduced subcutaneous adipose tissue

•

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

•

en:type 1 muscle fiber predominance

•

en:weakness of anterior compartment tibial muscles

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:underdeveloped muscles (in some patients)

•

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

•

en:swelling of the affected areas

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:reduced ankle dorsiflexion

•

en:neonatal edema (in some patients)

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:prominent involvement of the quadriceps femoris muscles

•

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

•

en:polyglucosan accumulation

•

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

•

en:panniculitis

•

en:painful swelling in fasciae

•

en:neurogenic changes seen on emg and biopsy

•

en:neurogenic atrophy seen on muscle biopsy

•

en:loss of achr

•

en:muscle weakness, severe

•

en:internal nuclei (in some patients)

•

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

•

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

•

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

•

en:decreased caveolae in muscle tissue

•

en:cytochrome-c oxidase deficiency

•

en:cox-deficient fibers

•

en:contractures of distal lower limbs

•

en:chronic denervation seen on emg

•

en:centralized myonuclei

•

en:calf hypertrophy (early in the disease)

•

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

•

en:depletion of mitochondrial dna

•

en:axial hypotonia (in some patients)

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic calf muscles

•

en:asymmetric muscle involvement

•

en:areflexia due to muscle weakness

•

en:absence of telethonin protein

•

en:abnormal axons with sprouting and swelling

•

en:infantile axial hypotonia

•

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

•

en:decreased or absent ankle reflexes

•

en:wasting of calf muscles (rare)

•

en:distal lower limb muscle weakness

•

en:hemihypertrophy of right arm and leg (rare)

•

en:increased internal nuclei seen on muscle biopsy

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:hypotrophy of type 1 fibers

•

en:hypotonia at birth

•

en:hypotonia (patients a and c)

•

en:hypotonia (45%)

•

en:hypotonia, mild

•

en:hyporeflexia in affected muscles

•

en:humeroperoneal weakness and atrophy

•

en:inability to stand on tiptoes

•

en:fiber-type variability

•

en:emg shows chronic denervation

•

en:electron microscopy showed z-disk streaming

•

en:edema of lower extremity

•

en:dystrophic changes on biopsy

•

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

•

en:distal muscle wasting, mild

•

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

•

en:distal muscle atrophy due to neuropathy

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:increased mitochondria seen on muscle biopsy

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle fiber necrosis

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle fiber atrophy, profound (rare)

•

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

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle activity is electrically silent on emg

•

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

•

en:muscle biopsy shows dystrophic changes

•

en:muscle atrophy, proximal, upper and lower limbs

•

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

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:increased visceral fat

•

en:increased variability of fiber size seen on muscle biopsy

•

en:muscle weakness and atrophy

•

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

•

en:muscle weakness (in 90% of patients)

•

en:reduced muscle strength (in some patients)

•

en:myofibrillar lesions

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:unable to walk

•

en:thenar muscle atrophy

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:spontaneous muscle activity

•

en:some abnormal aggregation of mitochondria

•

en:small or absent axon terminals

•

en:skeletal muscle shows dystrophic changes

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:neck muscle hypoplasia

•

en:rhabdomyolysis, episodic and recurrent

•

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

•

en:quadriceps atrophy (later onset)

•

en:quadriceps aplasia

•

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

•

en:proximal lower limb amyotrophy

•

en:proximal and distal muscle atrophy

•

en:plantar fibromatosis

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:increased internal nuclei in skeletal muscle fibers

•

en:abnormal fat distribution

•

en:increased fatigue

•

en:biceps aplasia

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:cox-depleted fibers

•

en:congenital fiber type disproportion

•

en:centralized nuclei, rare

•

en:carpopedal spasm

•

en:calf muscle hypertrophy

•

en:buffalo hump

•

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

•

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

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:ankle reflex absent

•

en:ankle clonus

•

en:angulated atrophic muscle fibers

•

en:amyotrophy affects c5 to t1 myotomes

•

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

•

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

•

en:abnormal distribution of subcutaneous fat

•

en:decreased muscle density on imaging

•

en:deltoid muscle hypoplasia

•

en:imaging shows muscle atrophy and fatty replacement

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:hypotonia, severe, persistent

•

en:hypoplasia of muscle

•

en:hypoplasia of infraspinatus muscle

•

en:hypertonicity (uncommon)

•

en:hypertonia in infancy

•

en:hyaline inclusion

•

•

en:hematomas, recurrent large subcutaneous

•

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

•

en:fragmented mitochondrial network

•

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

•

en:emg shows myopathic features

•

en:emg - repetitive muscle discharges

•

en:electromyogram normal

•

en:edema is present at birth and then slowly decreases

•

en:edema (hands and feet)

•

en:distal muscle weakness due to peripheral neuropathy

•

en:disruption of the m-line

•

en:difficulty running and jumping

•

en:difficulty raising arms

•

en:abdominal muscle hypoplasia

•

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

•

en:abnormal muscle tone

•

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

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:myopathy (in some patients)

•

•

en:muscle weakness, symmetric, proximal, lower limbs

•

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

•

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

•

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

•

en:muscle hypertonia

•

en:muscle cramp

•

en:muscle biopsy shows type 1 fiber predominance

•

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

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

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

•

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

•

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

•

en:muscles have a woody consistency on palpation

•

en:multi-core congenital myopathy

•

en:mitochondrial dna depletion, severe

•

en:neonatal hypotonia

•

en:no ragged-red fibers

•

en:lymphangiectasia

•

en:skeletal muscle weakness

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:z-disk streaming

•

en:wrist swelling

•

•

en:variation in skeletal muscle fiber diameter

•

en:truncal hypotonia (family a)

•

en:thenar eminence hypoplasia

•

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

•

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

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:shoulder girdle muscle atrophy

•

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

•

en:scapuloperoneal amyotrophy

•

en:ragged red fibers (in some patients)

•

en:proximal muscle weakness

•

en:prolonged endplate potentials

•

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

•

en:progressive distal and proximal symmetric limb weakness

•

en:preserved junctional folds

•

en:lymphedema of lower extremity

•

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

•

en:lipid droplet accumulation

•

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

•

en:distal muscle atrophy, predominantly lower limbs

•

en:distal amyotrophy

•

en:disorganization of the myofibrillar pattern

•

en:difficulty in toe walking

•

en:deposits immunoreactive to beta-amyloid protein

•

en:deglutition disorders

•

en:decreased shank muscle mass

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

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

•

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

•

en:decreased achr

•

en:cytoplasmic inclusion bodies (finding)

•

en:cranial muscles spared

•

en:chronic weakness

•

en:calf muscle weakness

•

en:attacks precipitated by cold temperature

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

en:large lipid droplets

•

en:distal muscle weakness, upper and lower limbs

•

en:buffalo hump (rare)

•

en:distal muscle weakness occurs later

•

en:handgrip myotonia

•

•

en:increased mitochondria with abnormal cristae

•

en:increased fat and fibrous tissue

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:impaired toe-walking

•

en:hypotonia (families a and b)

•

en:hypotonia, severe (patient b)

•

en:hypoplasia of serratus anterior muscle

•

en:hang weakness

•

en:increased fatty and connective tissue in skeletal muscle

•

en:generalized muscle weakness, proximal and distal

•

en:emg shows myopathy

•

en:easy fatigue

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:electromyogram abnormal

•

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

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

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

•

en:enlarged mitochondria

•

en:extensor finger muscle weakness

•

•

en:muscle weakness, lower limbs (patient a)

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness in upper limbs

•

en:prominent involvement of the biceps brachii muscles

•

en:positive staining for atpase activity at ph of 4.3

•

en:pena-shokeir syndrome type i

•

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

•

en:painful swelling in aponeuroses

•

en:no facial muscle involvement

•

en:neurogenic changes

•

en:nonspecific muscle fiber atrophy

•

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

•

en:neck and proximal limb muscle myopathy

•

•

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

•

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

•

en:muscle weakness lower limb

•

en:muscle weakness is not a feature

•

en:quadriceps weakness

•

en:myalgia with febrile episodes (rare)

•

en:trunk muscle atrophy

•

en:rectus abdominis muscle separation

•

en:tubular aggregates mainly in type 1 fibers

•

en:arm/shoulder muscle hypoplasia

•

en:muscle pain following exercise (in some patients)

•

en:amyotrophy (1 patient)

•

en:abnormal variation in fiber type seen on muscle biopsy

•

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

•

en:z-line streaming see on electron microscopy

•

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

•

en:upper limb involvement occurs later or not at all

•

en:tubular aggregates in muscle fibers may occur

•

en:respiratory distress (congenital form)

•

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

•

en:tendinous and tuberous xanthoma

•

en:symmetrical muscle wasting

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

•

en:skeletal muscle may show less severe mtdna deletion

•

en:muscle weakness, distal (in some patients)

•

en:emg shows fibrillations

•

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

•

en:cold sensitivity has been reported

•

en:distal muscle atrophy due to neurologic disease

•

en:deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:decremental response on 3-hz repetitive nerve stimulation

•

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

•

en:decreased muscle mass, especially distally

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:contractures of upper limbs (in some patients)

•

en:calf pseudohypertrophy rare

•

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

•

en:axial muscle hyperextension, episodic

•

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

•

•

en:accelerated decay of the synaptic current

•

en:abnormal z bands

•

en:abnormal mitochondrial proliferation

•

en:abnormal jitter

•

en:biopsy shows dystrophic changes

•

en:edema, subcutaneous, generalized

•

en:fasciculations (in some patients)

•

en:muscle biopsy shows lipid droplets

•

en:increased variation in fiber size seen on muscle biopsy

•

en:muscle atrophy restricted to the upper limb

•

en:mitochondria dna deletion

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:lymphedema, dorsa of feet

•

en:loss of subcutaneous fat, diffuse

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of ability to walk in early childhood

•

en:limb-girdle muscle weakness

•

en:increased muscle tone in the lower limbs

•

en:fatty replacement

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased centralized nuclei

•

en:hypotonia (untreated hypothyroidism)

•

en:hypothenar muscle atrophy

•

en:frontalis muscle weakness

•

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

•

en:fibromyalgia

•

en:fiber type variation

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:congophilic deposits

•

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

•

en:nerve conduction studies normal

•

en:reduced muscle mass

•

en:proximal muscles may be mildly affected

•

en:progressive proximal muscle involvement

•

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

•

en:pharyngeal muscle weakness

•

en:peroneal muscle atrophy

•

en:pectoralis major hypoplasia

•

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

•

en:nemaline rods (in some patients)

•

en:secondary myopathic changes

•

•

en:myopathic changes seen on emg of affected muscle

•

en:myofibromatosis

•

en:muscle weakness and atrophy, distal

•

en:muscle wasting (especially legs and arms)

•

en:muscle rigidity

•

en:muscle hypotonia

•

en:muscle cramps may affect jaw muscles

•

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

•

en:severely decreased or absent lamp2 protein

•

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

•

en:tendon tears

•

en:weakness worsened by activity

•

en:walking delay

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:type 1 fiber atrophy

•

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

•

en:triceps aplasia

•

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

•

en:tenderness of lower extremities

•

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

•

en:swelling of the hands and feet, episodic

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:some patients become wheelchair-dependent

•

en:soft fleshy palms (50%)

•

en:small miniature endplate currents (mepc)

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:secondary loss of merosin and desmin

•

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

•

•

en:fat pad anterior to malleolus

•

en:exercise intolerance (patient a)

•

en:edema of dorsum of hands and feet

•

en:distal myopathy (in 1 family)

•

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

•

en:distal muscle atrophy, affecting the lower limbs

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:difficulty running or inability to run

•

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

•

en:fiber type variation seen on biopsy

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased muscle mass in the thighs

•

en:decreased hand grip strength

•

en:decreased exercise tolerance

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

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

•

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

•

en:fiber-type grouping pattern

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:floppy infant syndrome

•

en:mallory-like bodies

•

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

•

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

•

en:muscle atrophy (in some patients)

•

en:muscle atrophy, upper and lower limbs

•

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

•

en:mri shows increased connective tissue and fat

•

en:mitochondrial dna deletions (in some patients)

•

en:marked muscular hypertrophy

•

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

•

en:lymphedema, hands (rare)

•

en:gowers sign (in some patients)

•

en:internal nuclei seen on muscle biopsy

•

en:increased muscle tone at birth

•

en:inability to run

•

en:hypotonia, axial, severe

•

en:hypertonicity of the lower limbs

•

•

•

en:muscle weakness

•

en:muscle weakness, mainly proximal and axial

•

en:muscle weakness, proximal greater than distal

•

en:muscular appearance

•

en:muscle weakness (cvs+)

•

en:muscle weakness of limb

•

en:muscle pain and cramping on exertion

•

en:muscular fasciculation

•

en:muscle wasting, severe, primarily in the legs

•

en:lower limbs more affected than upper limbs

•

en:muscle hyperirritability

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy (type i)

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:mild variability in muscle fiber size

•

en:loss of gluteal adipose tissue

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myofibril destruction (in some patients)

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:myotonia is present in majority of cases

•

en:secondary myopathic features

•

en:levator palpebrae superioris atrophy

•

en:ubiquinone decreased

•

en:tubulofilamentous inclusions

•

en:toe-walking gait

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:structurally abnormal mitochondria

•

en:small miniature endplate potentials (mepp)

•

en:shoulder weakness and atrophy

•

en:shortening of various muscle-tendon groups in feet

•

en:secondary loss of sarcolemmal caveolin-3

•

en:neurogenic changes seen on emg

•

en:repetitive response to single nerve stimulation

•

en:repetitive action potentials in response to single nerve stimulation

•

en:reduced lower limb subcutaneous fat

•

en:rare necrotic fibers

•

en:proximal muscles more often affected

•

en:prolonged endplate currents

•

en:normal or increased adipose tissue around the neck

•

en:normal lamp2 staining (309060)

•

en:non-pitting edema

•

en:loss of antigravity strength

•

en:alimentary edema

•

en:lack of integrin alpha-7 staining

•

en:central cores seen on muscle biopsy

•

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

•

en:decreased muscle bulk

•

en:decreased mitochondria

•

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

•

en:decreased complex i activity (rare)

•

en:decreased activity of mitochondrial complex i

•

en:cox-negative fibers seen on muscle biopsy

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:congophilic staining

•

en:calf hypertrophy (reported in 1 family)

•

en:decremental muscle response to repetitive nerve stimulation

•

en:bulbar weakness

•

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

•

en:atrophic muscle fibers

•

en:apoptotic nuclei

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:variation of fiber size and shape

•

en:acquired partial lipodystrophy

•

en:abnormal subcutaneous fat tissue distribution

•

en:abnormal iron deposition in mitochondria

•

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

•

en:degenerating mitochondria

•

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

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased connective tissue

•

en:inability to sit or hold head up

•

en:hypotonia, truncal and appendicular

•

en:hyporeflexia

•

en:hyperactive deep tendon reflexes

•

•

en:firm muscles

•

en:fat accumulation in the suprabuttock area

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:evidence of lymphatic rerouting

•

en:emg shows myopathic pattern

•

en:emg shows myopathic and neurogenic changes

•

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

•

en:dystrophic changes seen on muscle biopsy

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:distal muscle weakness, occurs initially

•

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

•

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

•

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

•

en:proximal amyotrophy

•

en:walking may be limited

•

en:muscle weakness after cooling or on warming affected muscle

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:normal or increased truncal adipose tissue

•

en:normal or increased abdominal adipose tissue

•

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

•

en:myxedematous appearance

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes early in disease seen on emg

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness, lower limbs, during exercise

•

en:no staining for oxidative enzymes

•

en:muscle mounding

•

en:muscle hematoma

•

en:muscle fiber regeneration

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows dystrophic features

•

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

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondrial swelling

•

en:mild muscle weakness

•

en:no muscle weakness

•

en:nuclear clumps

•

en:marked variability of fiber size

•

en:signs of denervation seen on biopsy

•

en:weak extraocular muscles

•

en:muscular dystrophy, limb-girdle, type 1c

•

en:variability in fiber size

•

en:vacuoles are autophagocytic

•

en:upper limb muscle hypoplasia

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:subcutaneous lipomatous tissue

•

en:soft tissue vascular malformations

•

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

•

en:shoulder girdle weakness

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:replacement of myofibers with connective tissue

•

en:relative sparing of the tibialis anterior

•

en:ragged-red muscle fibers

•

en:quadriceps muscle spared

•

en:pyruvate oxidation defect

•

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

•

en:primarily affects lower limbs

•

en:poor muscle mass

•

en:pelvic girdle muscle atrophy

•

en:mildly increased mtdna

•

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

•

en:lower limb muscle hypotrophy

•

en:centralized nuclei may be seen

•

en:distal lower limb amyotrophy

•

en:distal limb muscle weakness and atrophy

•

en:degenerating nerve terminals

•

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

•

en:decreased postsynaptic achr

•

en:decreased muscle bulk (in one patient)

•

en:decreased mitochondrial complex v activity

•

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

•

en:decreased activity of respiratory complex ii+iii

•

en:calf hypertrophy (uncommon)

•

en:dystrophic features seen on muscle biopsy

•

en:atrophy of upper girdle muscles

•

en:atrophy of the lower leg muscles

•

en:angulated fibers

•

en:angular atrophic fibers

•

en:adiposis on mri

•

en:absence of myotonia in infancy (congenital form)

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:loss of facial adipose tissue

•

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

•

en:distal muscle weakness and atrophy

•

en:decreased activity of mitochondrial complex iii

•

en:electromyographic decrements in some muscles

•

en:gluteus maximus and thigh adductors most affected

•

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

•

en:lipoatrophy of trunk

•

en:emg shows myopathic changes

•

en:limb-girdle muscle atrophy

•

en:increased lysosomal glycogen

•

en:increased fibrosis (in some patients)

•

en:increased fatigability

•

en:hand muscle atrophy

•

en:hamstring and quadriceps muscles mildly affected

•

en:glycogen depletion in skeletal muscle

•

en:increased endomysial fibrosis

•

en:generalized amyotrophy

•

en:gastrocnemius and soleus muscles most affected

•

en:fibrillations in affected muscles

•

en:fiber size variation

•

en:fasciculations (less common)

•

en:facial diplegia

•

en:generalized muscular appearance from birth

•

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

•

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

•

en:changes in sarcoplasmic reticulum and t-tubules

•

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

•

en:edematous hands and feet (1 patient)

•

en:edema, generalized

•

en:calf hypertrophy (less common)

•

en:decreased activity of complexes ii+iii

•

en:distal muscle atrophy due to denervation

•

en:decreased muscle mass

•

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

•

en:congenital muscular dystrophy (disorder)

•

en:emg in myotonia permanens shows continuous myotonic activity

•

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

•

en:hypotonia, severe, neonatal

•

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

•

en:exercise-induced muscle fatigue

•

en:exertional leg pain

•

en:facial muscle atrophy

•

en:flaccid neck

•

en:global muscle weakness

•

en:heterotopic bone formation in subcutaneous fat

•

en:hypoplasia of the hand muscles (29%)

•

en:hypotonia (patient b)

•

en:hypotrophic type 2 muscle fibers

•

en:biopsy shows myopathy without vacuoles

•

en:increased internal nuclei (in some patients)

•

en:calf and thigh cramping muscle pains

•

en:ragged-red fibers seen on muscle biopsy

•

en:axial muscle weakness

•

en:slow motor responses to sudden events (i.e., falling)

•

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

•

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

•

en:neuropathic or myopathic changes seen on emg

•

en:poor muscle bulk

•

en:presynaptic defect at the neuromuscular junction

•

en:relative sparing of the rectus femoris

•

en:rounded, atrophic fibers (family a)

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:severe disability within 20 years of onset

•

en:shortened open achr channel duration

•

en:shortening of flexor profundus muscle-tendon unit

•

en:small round skeletal muscle fibers

•

en:attacks precipitated by potassium

•

en:swelling of the extremities, episodic

•

en:thenar amyotrophy (rare)

•

en:upper and/or lower limbs may be affected

•

en:vacuolar myopathy may occur

•

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

•

en:muscle soft, tissue

•

en:abnormalities in myofibril organization

•

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

•

en:abnormal irregular myofibrillar network

•

en:anterior tibial muscles first involved

•

en:atrophy, mild (in some cases)

•

en:increased intramuscular fat

•

en:weakness of neck extensors (rare)

•

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

•

en:thickening of fascia of forearm

•

en:proximal muscle weakness (85% of patients)

•

en:proximal myopathy

•

en:quadriceps atrophy

•

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

•

en:rhabdomyolysis may occur

•

en:shortened open channel duration

•

en:slowly progressive limb-girdle myopathy

•

en:small nerve terminals

•

en:small type ii fibers

•

en:subsarcolemmal lipofuscin-positive deposits

•

•

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

•

en:proximal and distal muscle atrophy in lower limbs

•

en:upper limb weakness

•

en:virtually no active movement at birth (wws)

•

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

•

•

•

en:wasted lower leg muscles

•

en:muscle twitch

•

•

ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose

•

en:almost complete absence of large diameter fibers

•

en:muscular hypotonia

•

en:proximal muscle atrophy (in some patients)

•

en:progression to proximal muscle weakness

•

en:loose connective tissue

•

en:muscle stiffness or aching

•

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

•

en:lower limb muscle atrophy

•

en:mri shows fatty infiltration of affected muscles

•

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

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle biopsy shows atrophy

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows mitochondrial aggregates

•

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

•

en:muscle biopsy shows variation in fiber size

•

en:muscle spasticity

•

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

•

en:predominantly lower limb lymphedema

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness in forearm muscles

•

en:muscular hypotonia of the trunk

•

en:myofibrillar myopathy

•

en:myopathic findings on biopsy have been occasionally reported

•

•

en:neuropathic process seen on muscle biopsy

•

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

•

en:normal mitochondrial morphology (1 patient)

•

en:normal or increased facial adipose tissue

•

en:no lipodystrophy in face and neck

•

en:pelvic girdle weakness

•

en:necrosis and degeneration seen on muscle biopsy

◀

en:dystrophic changes

•

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119604 • caches: c1=8 c2=1004 c3=1

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