Diko : en:absence of laminin alpha-2 chain in muscle

en:absence of laminin alpha-2 chain in muscle

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1842904

Associations d'idées

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1000

en:z-disks with abnormal homogeneous material

•

en:swelling of the extremities, episodic

•

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

•

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

•

en:hyperactive deep tendon reflexes

•

en:lipid accumulation in muscle tissue

•

en:localized cellulitis

•

en:loss of ambulation (in some patients)

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:muscle stiffness (in older patients)

•

en:nonspecific myopathic changes seen on biopsy

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

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

•

en:hyporeflexia or areflexia

•

en:muscle weakness, limb-girdle, mild

•

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

•

en:nuclear clumps

•

en:prominent involvement of the quadriceps femoris muscles

•

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

•

en:retroperitoneal fibrosis (rare)

•

en:scapuloperoneal amyotrophy

•

en:small miniature endplate currents (mepc)

•

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

•

en:myalgia, episodic

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:decreased mitochondrial complex v activity

•

en:inability to stand on tiptoes

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

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

•

en:muscle weakness, primarily proximal

•

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

•

en:increased fatigue

•

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

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle biopsy shows neurogenic atrophy

•

en:myopathic features seen on emg

•

en:myopathy (rare)

•

en:myopathy seen on emg

•

en:myotonia is present in majority of cases

•

en:rhabdomyolysis

•

en:small miniature endplate potentials (mepp)

•

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

•

en:cervical muscle weakness

•

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

•

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

•

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

•

en:shoulder girdle weakness

•

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

•

en:muscle weakness restricted to the upper limb

•

en:myotonia

•

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

•

en:muscle weakness, predominantly proximal

•

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

•

en:low maximum workload on exercise testing

•

en:jitter

•

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

•

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

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:forearm muscle weakness

•

en:onset of weakness in hands and feet

•

en:scattered necrotic fibers

•

en:muscle weakness, episodic

•

en:atrophy of the intrinsic foot and hand muscles

•

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

•

en:muscle biopsy shows myopathic changes

•

en:sarcomere disappearance seen on muscle biopsy

•

en:poor head control

•

en:dysphonia

•

en:decremental muscle response to repetitive nerve stimulation

•

en:denervation

•

en:difficulty running

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:exercise-induced muscle cramps

•

en:fibromyalgia

•

en:reduced lower limb subcutaneous fat

•

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

•

en:angular fibers (in some patients)

•

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

•

en:handgrip myotonia

•

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

•

en:weakness and wasting of the lower limbs

•

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

•

en:small type ii fibers

•

en:superficial rerouting of lymph through the skin

•

en:proximal muscle weakness

•

en:poor development of the postsynaptic membrane

•

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

•

en:muscle weakness, proximal and distal

•

en:mitochondria show paracrystalline inclusions

•

en:abnormal iron deposition in mitochondria

•

en:cranial muscles spared

•

en:emg shows high-frequency spontaneous discharges

•

en:hypotonia (cvs+)

•

en:increased echo intensity in affected muscles

•

en:increased numbers of endplate regions seen on muscle biopsy

•

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

•

en:abnormal muscle tone

•

en:abnormal axons with sprouting and swelling

•

en:distal limb muscle atrophy (less common)

•

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

•

en:hip flexor weakness

•

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

•

en:umbilical hernia

•

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

•

en:difficulty raising arms

•

en:fatty replacement

•

en:mild weakness of the small hand muscles

•

en:mild muscular hypotonia

•

en:generalized hypotonia

•

en:a subset of patients develop bilateral weakness

•

en:edema reoccurs with infections

•

en:decreased postsynaptic folding at the neuromuscular junction

•

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

•

en:reduced postsynaptic cleft area

•

en:myogenic changes seen on emg

•

en:dystrophic skeletal muscle seen on biopsy

•

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

•

en:tremor of the upper limb

•

en:z-disk streaming

•

en:muscle atrophy (in some patients)

•

en:increased endo- and perimysial connective tissue

•

en:muscle atrophy, limb-girdle and proximal

•

en:generalized muscular appearance from birth

•

en:congenital fiber type disproportion

•

en:chronic denervation/reinnervation seen on emg

•

en:weakness of ankle plantar flexion

•

en:velopharyngeal muscle weakness

•

en:pena-shokeir syndrome type i

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:gluteal hypoplasia

•

en:hypotonia (2 patients)

•

en:increased visceral fat

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:no myofibrillar abnormalities or protein aggregation

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:enteroviral dermatomyositis syndrome

•

en:increased mitochondria with abnormal cristae

•

en:muscle fiber splitting (in some patients)

•

en:muscle mounding

•

en:myopathic findings on biopsy have been occasionally reported

•

en:neck flexor weakness

•

en:electron microscopy showed z-disk streaming

•

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

•

en:muscular appearance

•

en:muscular dystrophy (in some patients)

•

en:muscular fasciculation

•

en:nemaline myopathy (in 1 reported male)

•

en:myalgia with febrile episodes (rare)

•

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

•

en:myokymia

•

en:muscle weakness associated with fasting or infection

•

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

•

en:muscle weakness lower limb

•

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

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle weakness (cvs+)

•

en:muscle weakness (1 patient)

•

en:muscle weakness

•

en:muscle paralysis, episodic

•

en:muscle hypertrophy in affected area

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

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

•

en:painful adipose tissue

•

en:normal phosphorylase kinase activity in muscle

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:patchy muscle fiber degeneration

•

en:skeletal myopathy

•

en:z-disk degeneration

•

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

•

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

•

en:type 2 muscle fiber predominance

•

en:trunk muscle atrophy

•

en:tetanus-like muscle contractions

•

en:spasm

•

en:some abnormal aggregation of mitochondria

•

en:smooth muscle may also become involved

•

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

•

en:shortened open achr channel duration

•

en:polymyositis

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:rhabdomyolysis with exercise (in older patients)

•

en:reduced muscle strength (in some patients)

•

en:rectus abdominis muscle separation

•

en:ragged red fibers seen on biopsy

•

en:quadriceps atrophy (later onset)

•

en:pseudohypertrophy of muscle

•

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

•

en:proximal muscle weakness, less severe

•

en:proximal lower limb amyotrophy

•

en:prolonged miniature endplate currents

•

en:muscle biopsy shows lipid droplets

•

en:large hypertrophied fibers

•

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

•

en:cytochrome-c oxidase deficiency

•

en:distal muscle atrophy due to denervation

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:depletion of mitochondrial dna

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased numbers of achr

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased exercise tolerance

•

en:decreased distal reflexes

•

en:centralized myonuclei

•

en:facial edema

•

en:calf hypertrophy (early in the disease)

•

en:autophagic rimmed vacuoles

•

en:attacks precipitated by cold temperature

•

en:atrophy of the lower leg muscles

•

en:atrophic fibers seen on biopsy

•

en:ankle edema (finding)

•

en:amorphous granulofilamentous material associated with z-discs

•

en:absence of collagen vi immunostaining

•

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

•

en:absence of caveolin-3 staining

•

en:endplate myopathy

•

en:fatigue

•

en:muscle atrophy (type i)

•

en:leg cramps may occur with exercise

•

en:multiple mitochondrial dna deletions

•

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

•

en:mri shows fatty replacement

•

en:mitochondria dna deletion

•

en:mitochondrial myopathies

•

en:minipolymyoclonus

•

en:loss of lower-limb tendon reflexes

•

en:lipoma

•

en:lipodystrophy (in some patients)

•

en:limb-girdle muscle weakness

•

en:intranuclear inclusions (1 family)

•

en:fiber necrosis

•

en:internal nuclei

•

en:inguinal hernia

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased fibrosis (family a)

•

en:inclusions are tdp43-immunoreactive

•

en:hyporeflexia

•

en:hypertonicity (uncommon)

•

en:hyaline inclusion

•

en:glycogen deficiency in muscle fibers

•

en:gait unsteady

•

en:flaccid weakness or paralysis, episodic attacks

•

en:abnormal irregular myofibrillar network

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:absence of necrosis

•

en:muscle weakness is predominantly of extremities and tongue

•

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

•

en:nonspecific myopathic changes

•

en:neurogenic changes seen on emg and biopsy

•

en:neurogenic changes later in disease seen on emg

•

en:nemaline rods may be observed

•

en:myotonic discharges

•

en:myopathy with abnormal lipid metabolism

•

en:myofibroma (in 1 patient)

•

en:myofibromatosis

•

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

•

en:muscle weakness following prolonged exercise

•

en:no dystrophic changes

•

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

•

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

•

en:muscle stiffness or aching

•

en:muscle pain and cramps following exercise

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows ragged red fibers

•

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

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows atrophy

•

en:mitochondrial proliferation

•

en:normal or increased truncal adipose tissue

•

en:no lipodystrophy in face and neck

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:slim, muscular build (in some patients)

•

en:merosin-deficient congenital muscular dystrophy type 1a

•

en:weakness worsened by activity

•

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

•

en:acquired partial lipodystrophy

•

en:upper limb muscle hypoplasia

•

en:underdeveloped muscles (in some patients)

•

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

•

en:tibialis anterior muscle affected

•

en:soft tissue vascular malformations

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:secondary loss of merosin and desmin

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:relative sparing of the tibialis anterior

•

en:reduced subcutaneous adipose tissue

•

en:reduced muscle mass

•

en:red-ragged fibers (2p21del)

•

en:rectus fascia separation

•

en:proximal limb muscle weakness initially

•

en:progressive distal and proximal symmetric limb weakness

•

en:primarily affects lower limbs

•

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

•

en:polyglucosan accumulation

•

en:pelvic girdle weakness

•

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

•

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

•

en:lymphedema (lower limb)

•

en:cytochrome c oxidase-negative fibers

•

en:distal muscle atrophy due to neurologic disease

•

en:distal muscles may be affected

•

en:distal limb muscle weakness (less common)

•

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

•

en:difficulty walking and climbing stairs

•

en:deep finger muscle weakness

•

en:decreased density of calcium release units

•

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

•

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

•

en:decreased achilles reflex

•

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

•

en:dystrophic changes seen on muscle biopsy

•

en:congenital, nonprogressive myopathy

•

en:centralized nuclei, rare

•

en:cellulitis or infection may occur

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:biopsy shows defects in pyruvate oxidation

•

en:bilateral facial weakness (congenital form)

•

en:biceps aplasia

•

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

•

en:lower limbs more often affected

•

en:ascites (in some patients)

•

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

•

en:axial weakness

•

en:edematous hands and feet (1 patient)

•

en:global muscle weakness

•

en:edema at birth

•

en:increased glycogen

•

en:increased fibrosis

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:inclusions are dnajb6-immunoreactive

•

en:impaired heel-walking

•

en:hypotonia (patients a and c)

•

en:hyaline plaques with absent oxidative activity

•

en:hamstring and quadriceps muscles mildly affected

•

en:grip strength decreased

•

en:limb muscular atrophy

•

en:gait abnormality

•

en:emg shows increased insertion activity and fibrillation

•

en:edema of dorsum of hands and feet

•

en:foot extensor muscle weakness (later onset)

•

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

•

en:emg shows chronic denervation

•

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

•

en:emg shows myopathic changes

•

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

•

en:exercise intolerance (patient a)

•

en:facial diplegia

•

en:fatty infiltration

•

en:normal or increased adipose tissue around the neck

•

en:normal dystrophin immunostaining

•

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

•

en:neurogenic changes

•

en:nemaline rods (rare)

•

en:necrotic fibers

•

en:necrotic and regenerating muscle fibers

•

en:myositis (in some patients)

•

en:myopathic pattern on emg

•

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

•

en:muscle weakness of limb

•

en:muscle weakness increases with age

•

en:muscle aches, cramps

•

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

•

en:muscle weakness, distal more than proximal

•

en:muscle shows lipid accumulation

•

en:muscle pain (less common)

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows myofibrillar changes

•

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

•

en:painful swelling in aponeuroses

•

en:muscle weakness, distal, particularly affecting the hands

•

en:reduced muscle tone but normal power

•

en:pain or cramping during sustained manual activity

•

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

•

en:z-band streaming

•

en:minicores (in some)

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:type 1 muscle fiber predominance

•

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

•

en:thenar muscle atrophy

•

en:superior rectus atrophy

•

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

•

en:spontaneous muscle activity

•

en:rhabdomyolysis, episodic and recurrent

•

en:plantar fibromatosis

•

en:repetitive action potentials in response to single nerve stimulation

•

en:ragged-red fibers seen on muscle biopsy

•

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

•

en:proximal muscle weakness (in some patients)

•

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

•

en:proximal limb muscle weakness (occurs later)

•

en:prominent veins, lower limbs

•

en:prominent involvement of the biceps brachii muscles

•

en:progression to wheelchair in fourth decade

•

en:poor exercise tolerance

•

en:multiple rimmed vacuoles seen on biopsy (in some patients)

•

en:emg shows myopathic pattern

•

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

•

en:contractures of distal lower limbs

•

en:distal atrophy of the legs

•

en:difficulty walking up stairs

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased postsynaptic achr

•

en:decreased or absent ankle reflexes

•

en:decreased muscle succinate dehydrogenase

•

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

•

en:congophilic deposits

•

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

•

en:bilateral foot drop

•

en:benign soft tissue developmental anomalies

•

en:atrophy of upper girdle muscles

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic calf muscles

•

en:areflexia due to muscle weakness

•

en:anterior tibial muscles first involved

•

en:absence of pectoralis minor muscle

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal variation in fiber type seen on muscle biopsy

•

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

•

en:dystrophic changes on biopsy

•

en:lower limbs more affected than upper limbs

•

en:impaired mitochondrial respiration

•

en:loss of ability to walk in early childhood

•

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

•

en:limb weakness, proximal followed by distal

•

en:limb-girdle muscle weakness (2 families)

•

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

•

en:increased variability of fiber size seen on muscle biopsy

•

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

•

en:increased muscle tone in the lower limbs

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased centralized nuclei

•

en:hypotonia from birth to age 12

•

en:electromyography shows myotonic discharges

•

en:hypotonia, mild (1 patient)

•

en:hip girdle muscle atrophy

•

en:hamstring muscle affected

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:focal loss of cross- striations

•

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

•

en:fibrillation

•

en:fatty deposition

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exercise intolerance (less common)

•

en:abnormal distribution of subcutaneous fat

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:absence of gamma-sarcoglycan protein

•

en:muscle weakness and atrophy, proximal

•

en:neonatal edema (in some patients)

•

en:necrotic changes (finding)

•

en:myopathy, mild to severe

•

en:myopathy

•

en:myopathic changes early in disease seen on emg

•

en:myogenic profile on electromyography

•

en:myalgia

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness in forearm muscles

•

en:muscle weakness, proximal, slowly progressive

•

en:painful muscle cramps

•

en:muscle weakness, mainly proximal

•

en:muscle wasting (especially legs and arms)

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle atrophy, upper and lower limbs

•

en:normal respiratory chain studies seen on muscle biopsy

•

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

•

en:mitochondrial dna deletions (in some patients)

•

en:small atrophic muscle fibers

•

en:accumulation of abnormal mitochondria

•

en:weakness of neck extensors (rare)

•

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

•

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

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:umbilical cord bleeding

•

en:type 1 fiber atrophy

•

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

•

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

•

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

•

en:shortened open channel duration

•

en:pharyngeal muscle weakness

•

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

•

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

•

en:sarcoplasmic inclusions

•

en:rhabdomyolysis (in some patients)

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:quadriceps muscle spared

•

en:progression to proximal muscle weakness

•

en:preserved nerve terminals seen on muscle biopsy

•

en:poor sarcomeric structure (in some patients)

•

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

•

en:mitochondrial dna depletion, severe

•

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

•

en:mitochondrial complex iii deficiency (disorder)

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:distal muscle weakness, predominantly lower limbs

•

en:distal muscle weakness, occurs initially

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:distal lower limb muscle weakness and atrophy

•

en:distal lower limb anterior compartment weakness

•

en:distal limb muscle weakness occurs later

•

en:disruption of the m-line

•

en:difficulty rising from chair

•

en:denervation of skeletal muscles

•

en:degenerating fibers

•

en:decreased muscle mass (especially of limbs)

•

en:disuse atrophy

•

en:decreased muscle bulk

•

en:decreased coenzyme q10

•

en:decreased ability to run

•

en:cellulitis due to immunodeficiency

•

en:biopsy shows myopathic and dystrophic changes

•

en:biopsy muscle normal

•

en:attacks last 4 to 24 hours

•

en:atrophy, neurogenic muscular

•

en:affected muscles show atrophy

•

en:minimal subcutaneous fat

•

en:distal muscle weakness may occur

•

en:attacks precipitated by rest after exercise

•

en:endplate abnormalities

•

en:increased internal nuclei seen on muscle biopsy

•

en:mild muscle weakness

•

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

•

en:loss of ambulation

•

en:mild weakness

•

en:inflammatory cells absent

•

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

•

en:increased variation in muscle fiber diameter

•

en:increased variability in muscle fiber diameter

•

en:increased perisarcolemmal calcium deposition

•

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

•

en:large lipid droplets

•

en:increased fatty and connective tissue in skeletal muscle

•

en:extensor finger muscle weakness

•

en:increased fatigability

•

en:exercise-induced muscle fatigue

•

en:facial muscle weakness and atrophy, progressive

•

en:fiber-type grouping pattern

•

en:finger and wrist extensor weakness

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypotonia (families a and b)

•

en:hypotrophic type 2 muscle fibers

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle strength and bulk is preserved

•

en:muscle pain and cramping on exertion

•

en:muscle fibers contain internal nuclei

•

en:muscle fatigability

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows nemaline rods

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:muscle biopsy shows loss of type 2a fibers

•

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

•

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

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle biopsy may show inflammatory changes

•

en:muscle atrophy, mild

•

en:mitochondrial complex i deficiency

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:many fibers with internal nuclei

•

en:macroglossia

•

en:muscle weakness trunk

•

en:prominent muscular appearance

•

en:myofibrillar disintegration

•

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

•

en:symmetrical muscle wasting

•

en:lymphedema of the hands (in some patients)

•

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

•

en:soft tissue or tendinous calcinosis may occur

•

en:small or absent axon terminals

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:severe muscular hypotonia

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:respiratory distress (congenital form)

•

en:rectus medial atrophy

•

en:myofibril destruction (in some patients)

•

en:quadriceps weakness

•

en:preserved heel standing

•

en:plasma membrane discontinuities

•

en:no facial muscle involvement

•

en:neuropathic or myopathic changes seen on emg

•

en:neurogenic changes seen on emg

•

en:nemaline bodies

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

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

•

en:distal muscle weakness in lower limbs, severe

•

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

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:distal limb muscle atrophy, lower more than upper

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty walking and climbing stairs (patient a)

•

en:diastasis recti

•

en:degenerating junctional folds

•

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

•

en:decreased muscle mass in the thighs

•

en:decreased muscle bulk (in one patient)

•

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

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:cox-deficient fibers

•

en:congenital myopathy (in one patient)

•

en:centrally nucleated skeletal muscle fibers

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:atrophy of shins

•

en:arm/shoulder muscle hypoplasia

•

en:absence of merosin in muscle

•

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

•

en:ubiquinone decreased

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:emg shows myopathic features

•

en:levator palpebrae superioris atrophy

•

en:imaging shows muscle atrophy and fatty replacement

•

en:lack of integrin alpha-7 staining

•

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

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased mitochondria seen on muscle biopsy

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased internal nuclei

•

en:increased falls

•

en:increased connective tissue and fat

•

en:increased adipose fibrosis

•

en:hypotonia (patient a)

•

en:emg shows neurogenic changes consistent with denervation

•

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

•

en:hernia

•

en:hematomas, recurrent large subcutaneous

•

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

•

en:gowers sign

•

en:generalized muscle weakness, severe

•

en:extensive fatty infiltration on biopsy

•

en:eosinophilic inclusions

•

en:enlarged nuclei with central pallor

•

en:type 2 fiber predominance

•

en:degenerating nerve terminals

•

en:waddling gait

•

en:muscle hypertonia

•

en:necrosis

•

en:myopathy in approximately 45% of patients

•

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

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness, variable

•

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

•

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

•

en:muscle pain after exercise

•

en:muscle hypertrophy may occur

•

en:muscle biopsy shows type 1 fiber predominance

•

en:neuropathic process seen on muscle biopsy

•

en:muscle biopsy shows neurogenic angulated fibers

•

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

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

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

•

en:mtdna deletions seen on muscle biopsy

•

en:mri shows fatty infiltration of affected muscles

•

en:mitochondrial myopathy, severe

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:necrotic and atrophic fibers with centralized nuclei

•

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

•

en:marked lack of adipose tissue

•

en:rimmed vacuoles on biopsy

•

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

•

en:wrist swelling

•

en:vacuoles are autophagocytic

•

en:triceps aplasia

•

en:swelling of the affected areas

•

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

•

en:sparing of small hand and finger muscles

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:severely decreased or absent lamp2 protein

•

en:rigidity (uncommon)

•

en:normal or increased facial adipose tissue

•

en:relative muscle weakness, especially in pelvic girdle

•

en:recovery between attacks

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:ragged-red fibers on muscle biopsy

•

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

•

en:proximal and distal muscle atrophy in lower limbs

•

en:poor muscle mass

•

en:pelvic girdle muscle atrophy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:marked muscular hypertrophy

•

en:variation in skeletal muscle fiber diameter

•

en:mallory-like bodies

•

en:calf atrophy (later onset)

•

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

•

en:delayed motor development (cvs+)

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

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

•

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

•

en:decreased mtdna

•

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

•

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

•

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

•

en:difficulty standing

•

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

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:angulated atrophic muscle fibers

•

en:amyloid deposition in muscle fibers occurs rarely

•

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:absence of some scapular muscles (less common)

•

en:absence of muscle pseudohypertrophy

•

en:weak extraocular muscles

•

en:difficulty climbing stairs, jumping, running

•

en:decreased complex i activity (rare)

•

en:distal muscle atrophy, lower legs

•

en:glycogen depletion in skeletal muscle

•

en:lymphedema of lower extremity

•

en:lymphedema

•

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

•

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

•

en:increased number of small endplates

•

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

•

en:increased internal nuclei (in some patients)

•

en:hypotrophy of type 1 fibers

•

en:hypotonia (patient b)

•

en:hypotonia, axial, severe

•

en:lymphedema of the extremities

•

en:generalized weakness (adult-onset)

•

en:emg shows fasciculations

•

en:generalized muscle weakness, proximal and distal

•

en:electromyogram abnormal

•

en:emg may show myopathic features

•

en:edema, generalized

•

en:emg shows myopathic or neurogenic changes

•

en:fat pad anterior to malleolus

•

en:gait, drop foot

•

en:exertional leg pain

•

en:myotonia seen on emg

•

en:positive staining for slow myosin heavy chain

•

en:normal or decreased facial and neck adipose tissue

•

en:normal muscle fiber (hcs)

•

en:nonspecific myopathy seen on biopsy

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

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

•

en:neck and proximal limb muscle myopathy

•

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

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:muscular stiffness

•

en:muscle weakness, severe, axial and proximal predominance

•

en:premature exertional muscle weakness

•

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

•

en:muscle weakness, mainly proximal and axial

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:amyotrophy, neurogenic

•

en:progressive proximal muscle weakness

•

en:triceps weakness

•

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

•

en:alimentary edema

•

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

•

en:abnormal aggregates of desmin and filamin c

•

en:weakness of neck muscles may occur later

•

en:vacuolar myopathy may occur

•

en:uterine muscle may be stiff during pregnancy

•

en:umbilical depression

•

en:tendinous and tuberous xanthoma

•

en:prolonged endplate currents

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:small endplate

•

en:small atrophic fibers (in some patients)

•

en:shoulder weakness and atrophy

•

en:short and thickened z-discs

•

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

•

en:repetitive response to single nerve stimulation

•

en:relatively preserved limb strength

•

en:proximal muscle involvement may occur

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:distal muscle weakness

•

en:muscle atrophy affecting the upper back and neck muscles

•

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

•

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

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased caveolae in muscle tissue

•

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

•

en:cox-negative fibers

•

en:congenital absence of gluteal muscles

•

en:cellulitis in lower limbs, recurrent

•

en:calf muscle hypoplasia

•

en:asymmetric muscle involvement

•

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

•

en:anasarca

•

en:amyotrophy, distal, upper and lower limbs

•

en:aggregates contain granular electron-dense material

•

en:adhalin deficiency seen on muscle biopsy

•

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

•

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

•

en:abnormal fiber size variation

•

en:abnormally long mitochondria seen on muscle biopsy

•

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

•

en:decreased hand grip strength

•

en:distal amyotrophy

•

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

•

en:inability to sit or hold head up

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:merosin-positive biopsy

•

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

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:loss of subcutaneous adipose tissue in limbs

•

en:limb-girdle myopathy

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:distal limb muscle weakness, lower more than upper

•

en:hangrip myotonia

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:fiber size variation (in some patients)

•

en:fatty infiltration of affected muscles

•

en:facial paresis

•

en:evidence of lymphatic rerouting

•

en:emg shows myopathic and neurogenic changes

•

en:electromyogram normal

•

en:edema, subcutaneous, generalized

•

en:atrophy of type i fibers

•

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

•

en:calf hypertrophy (in some patients)

•

en:muscle weakness, severe

•

en:normal or increased abdominal adipose tissue

•

en:neurogenic atrophy seen on muscle biopsy

•

en:nemaline bodies are rarely intranuclear

•

en:myopathic features seen on biopsy

•

en:myopathic and neurogenic changes seen on emg

•

en:myoclonic spasms

•

en:muscular atrophy

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle cramps at rest

•

en:prolonged achr channel opening episodes

•

en:muscle biopsy shows variation in fiber size

•

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

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows grouped atrophy

•

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

•

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

•

en:muscle

•

en:mitochondria are placed at the periphery of muscle fibers

•

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

•

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

•

en:lower and upper limbs affected

•

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

•

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

•

en:usually no myopathic changes on biopsy

•

en:upper limb weakness

•

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

•

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

•

en:thick palmar fascia

•

en:calf muscle discomfort

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:proximal muscle weakness, limb-girdle distribution

•

en:soft fleshy palms (50%)

•

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

•

en:shoulder muscle weakness

•

en:shoulder girdle muscle atrophy

•

en:scapuloperoneal weakness

•

en:ring fibers

•

en:rhabdomyolysis may occur

•

en:repetitive response to single nerve stimulus

•

en:proximal myopathy

•

en:marked variability of fiber size

•

en:tenderness of lower extremities

•

en:loss of sarcomeric striations

•

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

•

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

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal leg muscle atrophy

•

en:disruption plasma membrane (in some patients)

•

en:difficulty walking, running

•

en:degrading mitochondria

•

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

•

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

•

en:decreased postsynaptic length

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:decreased mitochondria

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of mitochondrial complexes i and iv

•

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

•

en:cores extend along length of muscle fiber

•

en:central cores seen on muscle biopsy

•

en:calf muscle hypertrophy

•

en:loss of independent ambulation around age 12 years

•

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

•

en:cox-depleted fibers

•

en:dystrophic features

•

en:hypoplasia of cervical paravertebral muscles

•

en:emg shows neurogenic changes

•

en:loose connective tissue

•

en:lipohypoplasia, regional

•

en:increased muscle glycogen content

•

en:increased endomysial fibrosis

•

en:increased connective tissue and fat in muscles

•

en:inability to run

•

en:hypotonia, generalized (in some patients)

•

en:lipid and glycogen accumulation

•

en:hypertonia late

•

en:fiber type grouping

•

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

•

en:generalized muscle weakness (less common)

•

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

•

en:loss of ambulation between third and sixth decade

•

en:fibrous dysplasia (rare)

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:floppy infant syndrome

•

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

•

en:frequent falls

•

en:increased muscle tone at birth

•

en:limb-girdle muscle atrophy

•

en:limb muscle weakness, proximal, upper and lower

•

en:limb weakness and atrophy

•

en:lipoatrophy, generalized

•

en:lipomas or lipomatous masses (most cases)

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

en:mildly decreased cytochrome c oxidase activity

•

en:muscle cramp

•

en:mitochondrial swelling

•

en:muscles have a woody consistency on palpation

•

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

•

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

•

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

•

en:increased lipid

•

en:muscle atrophy later in the disease

•

en:fiber size variation

•

en:hypotonia, severe (patient b)

•

en:fiber-type variability

•

en:muscle weakness (hcs)

•

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

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:emg shows myopathy

•

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

•

en:enlarged mitochondria

•

en:exercise-induced myalgia

•

en:fibrillations in affected muscles

•

en:hypotonia, severe, neonatal

•

en:focal loss of cross striations seen on muscle biopsy

•

en:generalized muscle weakness

•

en:gluteus maximus and thigh adductors most affected

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:hand muscle atrophy

•

en:hemihypertrophy of right arm and leg (rare)

•

en:hypertonia at birth

•

en:muscle weakness, lower limbs, during exercise

•

en:tendon tears

•

en:muscle weakness after cooling or on warming affected muscle

•

en:deafferentation

•

en:thickening of fascia of forearm

•

en:type 2 fiber hypertrophy

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:virtually no active movement at birth (wws)

•

en:weakness of anterior compartment tibial muscles

•

en:berardinelli-seip congenital lipodystrophy

•

en:neck muscle weakness

•

fibromyalgie

•

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

•

atrophie musculaire neurogène

•

hernie ombilicale

•

empâtement de la nuque et du cou

•

hypertonie

•

en:general paralysis

•

en:obesity

•

en:megaloglossia

•

en:subsarcolemmal mitochondrial aggregates

•

en:some patients become wheelchair-dependent

•

en:muscle weakness begins proximally

•

en:potassium sensitivity has been reported

•

en:muscle weakness usually does not occur

•

en:myopathic changes seen on emg of affected muscle

•

en:myotonia is usually not seen

•

en:nemaline bodies occur in type 1 fibers

•

en:neurogenic atrophy

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:poor muscle build

•

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

•

en:slowly progressive limb-girdle myopathy

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:proximal muscle weakness (occasional)

•

en:proximal weakness

•

en:reduced ankle dorsiflexion

•

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

•

en:skeletal muscle weakness

•

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

◀

Génériques

[F] [H]

›

en:absence

•

en:absence of

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119287 • caches: c1=192 c2=1789 c3=368

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