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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1855582

Associations d'idées

[F]

›

1000

en:toe and foot dorsiflexor weakness

•

en:poor exercise tolerance

•

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

•

en:cervical muscle weakness

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal muscle atrophy (1 patient)

•

en:granular deposits in the sarcomeres

•

en:hematomas, recurrent large subcutaneous

•

en:increased falls

•

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

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:z-disk degeneration

•

en:intracellular granular osmiophilic deposits

•

en:progressive distal and proximal symmetric limb weakness

•

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

•

en:accumulated lipid droplets seen on muscle biopsy

•

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

•

en:infantile axial hypotonia

•

en:hypoglycosylation of alpha-dystroglycan

•

en:edema of lower extremity

•

en:buffalo hump (rare)

•

en:gowers sign (in some patients)

•

en:chronic neurogenic changes seen on emg

•

en:congenital, nonprogressive myopathy

•

en:muscle weakness associated with fasting or infection

•

en:thigh hypertrophy

•

en:degenerative features seen on muscle biopsy

•

en:emg shows fasciculations

•

en:foot extensor muscle weakness (later onset)

•

en:increased lysosomal glycogen

•

en:marked variability of fiber size

•

en:muscles become hard and tender during exercise

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:myoclonic spasms

•

en:myofibroma (in 1 patient)

•

en:relative sparing of the tibialis anterior

•

en:weakness and wasting of the lower limbs

•

en:muscle fiber splitting

•

en:degenerative changes with increased connective tissue

•

en:difficulty walking

•

en:giant granules in muscle cells

•

en:increased lipid droplets and abnormal mitochondria

•

en:mri shows fatty replacement

•

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

•

en:muscle weakness (1 patient)

•

en:dystrophic features

•

en:nemaline bodies are rarely intranuclear

•

en:muscle weakness, episodic

•

en:secondary loss of merosin and desmin

•

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

•

en:cellulitis in lower limbs, recurrent

•

en:biopsy shows myopathy without vacuoles

•

en:angulated fibers

•

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

•

en:generalized hypotonia

•

en:impaired mitochondrial respiration

•

en:loss of subcutaneous fat, diffuse

•

en:myotonia seen on emg

•

en:toe-walking gait

•

en:ubiquinone decreased

•

en:waddling gait

•

en:muscle fatigue

•

en:coenzyme q10 deficiency

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:dystrophic changes seen on muscle biopsy

•

en:loss of independent ambulation around age 12 years

•

en:weakness of neck extensors (rare)

•

en:muscle pain (in some patients)

•

en:muscle weakness in forearm muscles

•

en:nemaline bodies occur in type 1 fibers

•

en:shortening of various muscle-tendon groups in legs

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:short and thickened z-discs

•

en:pena-shokeir syndrome type i

•

en:abnormal fiber size variation

•

en:muscular stiffness

•

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

•

en:dystrophic skeletal muscle seen on biopsy

•

en:atrophy of neck muscles may occur later

•

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

•

en:weakness of neck muscles may occur later

•

en:normal or increased adipose tissue around the neck

•

en:distal muscle weakness may occur

•

en:muscle wasting, progressive

•

en:generalized amyotrophy

•

en:tenderness of lower extremities

•

en:scapuloperoneal amyotrophy

•

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

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:muscle biopsy shows lipid deposition

•

en:marked lack of adipose tissue

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:glycogen depletion in skeletal muscle

•

en:generalized muscle hypertrophy

•

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

•

en:calf muscle pseudohypertrophy

•

en:centrally located nuclei seen on muscle biopsy

•

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

•

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

•

en:hip abductor weakness and atrophy

•

en:muscle fibers may contain abnormal polysaccharide

•

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

•

en:absence of merosin in muscle

•

en:fibrous dysplasia (rare)

•

en:myasthenias

•

en:nemaline bodies (rods) on gomori trichrome staining

•

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

•

en:vacuoles are autophagocytic

•

en:proximal muscle weakness (in some patients)

•

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

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:hypotonia, neonatal (in some patients)

•

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

•

en:neonatal hypertonias

•

en:prominent muscular appearance

•

en:attacks usually decrease or disappear after age 40 years

•

en:rupture of tendon

•

en:limb-girdle muscle atrophy

•

en:muscle pain with exercise (in older patients)

•

en:upper and/or lower limbs may be affected

•

en:muscle weakness (hcs)

•

en:increased numbers of type 1 fibers

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:benign soft tissue developmental anomalies

•

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

•

en:structurally abnormal mitochondria

•

en:abnormal jitter

•

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

•

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

•

en:difficulty walking up stairs

•

en:hyporeflexia of lower limbs

•

en:increased staining for myotilin, dystrophin, desmin

•

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

•

en:neuropathic or myopathic changes seen on emg

•

en:reduced muscle strength (in some patients)

•

en:hand and foot weakness

•

en:acetazolamide may worsen symptoms

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

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

•

en:rhabdomyolysis (in some patients)

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:mitochondrial dna depletion (in some)

•

en:pharyngeal muscle weakness

•

en:lipomas or lipomatous masses (most cases)

•

en:hyporeflexia or areflexia

•

en:finger and wrist extensor weakness

•

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

•

en:relatively preserved limb strength

•

en:no myofibrillar abnormalities or protein aggregation

•

en:reduced postsynaptic cleft area

•

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

•

en:proximal muscle weakness, less severe

•

en:primary myopathic changes seen on emg

•

en:preserved junctional structure seen on muscle biopsy

•

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

•

en:onset of weakness in hands and feet

•

en:myogenic changes seen on emg

•

en:necrotic fibers

•

en:no facial muscle involvement

•

en:nonspecific myopathy seen on biopsy

•

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

•

en:nonspecific muscle fiber atrophy

•

en:nemaline myopathy (in 1 reported male)

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathic features seen on emg

•

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

•

en:myopathic changes on pathology

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:shortened open achr channel duration

•

en:atrophy of the lower leg muscles

•

en:shoulder weakness and atrophy

•

en:abnormal muscle tone

•

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

•

en:cores contain densely packed myofilaments

•

en:congenital muscular dystrophy (disorder)

•

en:chronic denervation seen on emg

•

en:calf and thigh cramping muscle pains

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:attacks relieved by potassium administration

•

en:attacks precipitated by potassium

•

en:muscle weakness trunk

•

en:absence of myotonia in infancy (congenital form)

•

en:'hanging' big toe

•

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

•

en:winged scapula

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:tubulofilamentous inclusions

•

en:tubular aggregates seen on biopsy

•

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

•

en:spontaneous muscle activity

•

en:sparing of the anterior tibial compartment

•

en:sparing of anterior tibialis muscle

•

en:smooth muscle may also become involved

•

en:small atrophic fibers (in some patients)

•

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

•

en:limb-girdle muscle weakness

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:denervation seen on emg

•

en:emg shows high-frequency spontaneous discharges

•

en:emg may show neurogenic changes

•

en:emg consistent with chronic neurogenic disorder

•

en:edema is present at birth and then slowly decreases

•

en:easy bruisability of lower extremities

•

en:dorsal and flexor muscles of the forearm are involved

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle weakness, lower legs

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:decreased muscle mass (especially in lower limbs)

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:decreased cytochrome c oxidase activity

•

en:decreased complex i activity (rare)

•

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

•

en:centralized nuclei, rare

•

en:carpopedal spasm

•

en:bulbar weakness

•

en:bilateral facial weakness (congenital form)

•

en:atrophy of type i fibers

•

en:absence of collagen vi immunostaining

•

en:denervation of skeletal muscles

•

en:endomysial fibrosis

•

en:hangrip myotonia

•

en:muscle weakness, mainly proximal and axial

•

en:merosin-positive biopsy

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle fatigability

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle atrophy in the limbs

•

en:muscle atrophy, diffuse, severe

•

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

•

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

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:low-amplitude compound muscle action potential (cmap)

•

en:hernia

•

en:lipoma

•

en:large hypertrophied fibers

•

en:lack of integrin alpha-7 staining

•

en:lack of antigravity movements (patient b)

•

en:involves upper and lower proximal muscles

•

en:inguinal hernia

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hypotonic

•

en:hypotonia (cvs+)

•

en:histochemically normal type-ii muscle fibers

•

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

•

en:limb-girdle muscular dystrophy

•

en:difficulty standing

•

en:nonspecific myopathy

•

en:proximal limb muscle weakness initially

•

en:prominent involvement of the quadriceps femoris muscles

•

en:progression to proximal muscle weakness

•

en:potassium sensitivity has been reported

•

en:poor muscle mass

•

en:percussion myotonias

•

en:panniculitis

•

en:no ragged-red fibers

•

en:no dystrophic changes

•

en:neurogenic atrophy

•

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

•

en:nerve conduction studies normal

•

en:nemaline rods may be observed

•

en:myotonia

•

en:myopathy, mild to severe

•

en:myopathy

•

en:myopathic pattern seen on emg

•

en:myopathic changes seen muscle biopsy

•

en:myalgia

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness following prolonged exercise

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:proximal myopathy

•

en:muscle weakness (in some patients)

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:distal limb muscle atrophy (less common)

•

en:walking delay

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:upper limb involvement may occur later

•

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:type ii fiber atrophy seen on muscle biopsy

•

en:tubular aggregates seen on muscle biopsy

•

en:truncal hypotonia (family a)

•

en:transient neonatal hypotonia (less common)

•

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

•

en:quadriceps muscle spared

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:soft fleshy palms (50%)

•

en:signs of denervation seen on biopsy

•

en:shoulder muscle weakness

•

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

•

en:rhabdomyolysis, episodic

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:rectus fascia separation

•

en:ragged red fibers (in some patients)

•

en:muscle weakness and atrophy may be asymmetric

•

en:proximal muscle weakness

•

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

•

en:generalized muscle weakness

•

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

•

en:increased variation in muscle fiber diameter

•

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

•

en:increased fatty and connective tissue in skeletal muscle

•

en:increased endomysial fibrosis

•

en:hypotonia (patient b)

•

en:hypoplasia of latissimus dorsi muscle

•

en:hip flexor weakness

•

en:hang weakness

•

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

•

en:loss of ambulation

•

en:extensor finger muscle weakness

•

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

•

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

•

en:emg shows fibrillation potentials

•

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

•

en:edema, generalized

•

en:easy fatigue

•

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

•

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

•

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

•

en:limb muscle weakness, proximal, upper and lower

•

en:hyaline plaques with absent oxidative activity

•

en:loss of sarcomeric striations

•

en:muscle biopsy shows atrophy

•

en:muscle weakness, proximal and distal

•

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

•

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

•

en:muscle spasticity

•

en:muscle rigidity

•

en:muscle hematoma

•

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 glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle weakness, mild, proximal and distal

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:lymphedema, hands (rare)

•

en:muscle atrophy appears later in disease course

•

en:lower limbs more often affected

•

en:lower limb muscle hypotrophy

•

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

•

en:marked muscular hypertrophy

•

en:mildly decreased cytochrome c oxidase activity

•

en:minimal subcutaneous fat

•

en:muscle atrophy (variable)

•

en:myositis (in some patients)

•

en:muscle stiffness (in older patients)

•

en:myofibrillar disintegration

•

en:myalgia, episodic

•

en:muscle weakness lower limb

•

en:muscle weakness increases with age

•

en:muscle weakness (type i)

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, distal more than proximal

•

en:muscle strength and bulk is preserved

•

en:muscle biopsy shows dystrophic changes

•

en:muscle pain following exercise (in some patients)

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

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

•

en:muscle biopsy may show inflammatory changes

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy, primarily in the legs

•

en:mtdna depletion seen on muscle biopsy

•

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

•

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

•

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

•

en:superior rectus atrophy

•

en:nemaline rod formation

•

en:rectus abdominis muscle separation

•

en:tetanus-like muscle contractions

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:shoulder muscle hypoplasia

•

en:secondary loss of sarcolemmal caveolin-3

•

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

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rimmed vacuoles with basophilic granular material

•

en:rhabdomyolysis with exercise (in older patients)

•

en:proximal muscle weakness occurs later

•

en:neurogenic abnormalities seen on emg

•

en:proximal muscle weakness, mild

•

en:proximal muscles more often affected

•

en:proximal lower limb amyotrophy

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:prolonged miniature endplate currents

•

en:progressive muscle weakness

•

en:postsynaptic abnormalities

•

en:poor muscle bulk

•

en:peroneal muscle weakness

•

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

•

en:minicores or core-like regions may be present

•

en:accumulation of abnormal mitochondria

•

en:macroglossia

•

en:contractures of upper limbs (in some patients)

•

en:distal muscle weakness, mild

•

en:distal muscle wasting, mild

•

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

•

en:distal limb muscle atrophy, lower more than upper

•

en:disorganized myofilaments seen on muscle biopsy

•

en:denervation

•

en:decreased shank muscle mass

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased coenzyme q10 levels in muscle

•

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

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

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

•

en:calf hypertrophy (reported in 1 family)

•

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

•

en:axial weakness

•

en:axial muscle hyperextension, episodic

•

en:attacks of weakness

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:angioedema

•

en:absence of some scapular muscles (less common)

•

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

•

en:distal muscle weakness due to neuropathy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

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

•

en:hypotonia, infantile, severe

•

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

•

en:lymphangitis, episodic

•

en:loss of adipose tissue occurs around puberty

•

en:localized cellulitis

•

en:internal nuclei

•

en:increased visceral fat

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased centralized nuclei

•

en:immunoreactivity for z-disk proteins

•

en:hypotonia (untreated hypothyroidism)

•

en:hyporeflexia

•

en:emg shows fibrillations

•

en:hypoplasia of infraspinatus muscle

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:generalized muscle contractions, episodic

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:fibrillation

•

en:fat accumulation in the suprabuttock area

•

en:facial edema

•

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

•

en:enlarged nuclei with central pallor

•

en:emg shows myopathic features

•

en:tubular aggregates mainly in type 1 fibers

•

en:mild weakness of the small hand muscles

•

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

•

en:muscle pain after exercise

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:nonspecific myopathic changes

•

en:neurogenic atrophy seen on muscle biopsy

•

en:necrotic muscle fibers

•

en:myotonic discharges

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic and neurogenic changes seen on emg

•

en:myofibromatosis

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle hypotonia

•

en:normal or increased facial adipose tissue

•

en:muscle hypertonia

•

en:muscle fiber splitting (in some patients)

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows inflammation with t cells

•

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 deletions (in some patients)

•

en:normal or increased abdominal adipose tissue

•

en:no lipodystrophy in face and neck

•

en:loss of facial adipose tissue

•

en:severely decreased or absent lamp2 protein

•

en:upper limb involvement occurs later or not at all

•

en:weakness worsened by activity

•

en:type 2 fiber hypertrophy

•

en:type 1 fiber predominance

•

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

•

en:tendon tears

•

en:small rounded fibers

•

en:shoulder weakness

•

en:shoulder girdle muscle atrophy

•

en:severe form shows absence of spontaneous activity at birth

•

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

•

en:pectoralis major hypoplasia

•

en:scapular muscle atrophy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:rimmed vacuoles on biopsy

•

en:retroperitoneal fibrosis (rare)

•

en:proximal muscle weakness in lower limbs

•

en:proximal amyotrophy

•

en:protein aggregates immunopositive for actin and desmin

•

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

•

en:poor development of the postsynaptic membrane

•

en:pelvic muscle involvement occurs later

•

en:low maximum workload on exercise testing

•

en:type 1 fiber atrophy

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

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

•

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

•

en:distal lower limb muscle weakness and atrophy

•

en:distal leg muscle atrophy

•

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

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:decreased muscle mitochondrial aconitase

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased distal reflexes

•

en:decreased activity of respiratory complex ii+iii

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:congophilic inclusions

•

en:emg may show myopathic features

•

en:congophilic deposits

•

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

•

en:atrophy of shins

•

en:anterior tibial muscles first involved

•

en:amyotrophy (1 patient)

•

en:absence of gamma-sarcoglycan protein

•

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

•

en:vacuolar myopathy may occur

•

en:usually a unilateral disorder

•

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

•

en:distal muscle atrophy due to neurologic disease

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:emg shows myopathic changes

•

en:hemihypertrophy of right arm and leg (rare)

•

en:increased fatigability

•

en:emg shows myopathy

•

en:increased endo- and perimysial connective tissue

•

en:increased fat and fibrous tissue

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia (patients a and c)

•

en:hypotonia, neonatal and later

•

en:hypoplasia of the hand muscles (29%)

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypertonia late

•

en:inclusion body myopathy

•

en:hand muscle atrophy

•

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

•

en:generalized muscular appearance from birth

•

en:facial muscle atrophy

•

en:exercise intolerance (cvs+)

•

en:exercise-induced myalgia

•

en:fiber-type variability

•

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

•

en:foot-drop

•

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

•

en:gastrocnemius and soleus muscles most affected

•

en:generalized muscle weakness, proximal and distal

•

en:muscle weakness, proximal greater than distal

•

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

•

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

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle weakness

•

en:muscle pain and cramping on exertion

•

en:muscle mri shows fatty infiltration

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber necrosis

•

en:muscle atrophy restricted to the upper limb

•

en:muscle coenzyme q deficiency

•

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

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

en:muscle atrophy (type i)

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, severe

•

en:muscle activity is electrically silent on emg

•

en:muscles do not contract upon electrical stimulation

•

en:mild endplate myopathy

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:muscle weakness and atrophy

•

en:reduced lower limb subcutaneous fat

•

en:nemaline bodies

•

en:rhabdomyolysis, episodic and recurrent

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

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

•

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

•

en:tendinous and tuberous xanthoma

•

en:symptoms may be induced by heat

•

en:spasm

•

en:small miniature endplate potentials (mepp)

•

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

•

en:skeletal muscle may show less severe mtdna deletion

•

en:replacement of affected muscle tissue with fatty tissue

•

en:neurogenic changes seen on emg

•

en:repetitive response to single nerve stimulation

•

en:proximal muscle involvement may occur

•

en:progressive interictal weakness is common

•

en:polymyositis

•

en:paracrystalline inclusions

•

en:pain or cramping during sustained manual activity

•

en:painful swelling in aponeuroses

•

en:numerous vacuole-like areas

•

en:no staining for periodic acid schiff (pas)

•

en:many fibers with internal nuclei

•

en:difficulty running

•

en:loss of ambulation (in some patients)

•

en:decreased ability to run

•

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

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:decreased numbers of achr

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

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

•

en:decreased achilles reflex

•

en:cytochrome c oxidase-negative fibers

•

en:diastasis recti

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:calf muscle hypertrophy

•

en:biopsy shows defects in pyruvate oxidation

•

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

•

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

•

en:ankle reflex absent

•

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

•

en:absence of muscle pseudohypertrophy

•

en:type 2 muscle fiber predominance

•

en:delayed ambulation

•

en:distal amyotrophy

•

en:loss of ability to walk in early childhood

•

en:gluteal hypoplasia

•

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

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased muscle tone (early in life)

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased focal mitochondrial density

•

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

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypotonia from birth to age 12

•

en:hyaline inclusion

•

en:generalized amyoplasia

•

en:distal muscle weakness

•

en:gait unsteady

•

en:fibromyalgia

•

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

•

en:fasciculations (in some patients)

•

en:facial paresis

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:exercise-induced muscle cramps

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:edema

•

en:dystrophic changes may be present

•

en:type 1 fiber atrophy seen on muscle biopsy

•

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

•

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

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows myofibrillar disruption

•

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

•

en:muscle atrophy later in the disease

•

en:muscle atrophy (in some patients)

•

en:mtdna deletions seen on muscle biopsy

•

en:mri shows increased connective tissue and fat

•

en:mitochondrial complex iii deficiency (disorder)

•

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

•

en:muscle weakness, proximal, slowly progressive

•

en:loss of ambulation between third and sixth decade

•

en:lipoatrophic appearance

•

en:lipid and glycogen accumulation

•

en:internal nuclei (in some patients)

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:inflammatory cells absent

•

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

•

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

•

en:increased connective tissue (in some patients)

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, severe, diffuse

•

en:hypotonia (45%)

•

en:scapuloperoneal weakness

•

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

•

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

•

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

•

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

•

en:tibialis anterior muscle affected

•

en:tetany

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:rhabdomyolysis may occur

•

en:muscle weakness, variable

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:reduced muscle mass

•

en:red-ragged fibers (2p21del)

•

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

•

en:poor sarcomeric structure (in some patients)

•

en:patients achieve independent ambulation, but may lose it

•

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

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes seen on emg

•

en:muscle weakness and atrophy, distal

•

en:increased central nucleation

•

en:variability in fiber size

•

en:hamstring and quadriceps muscles mildly affected

•

en:chronic weakness

•

en:decreased thiamine pyrophosphate

•

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

•

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

•

en:decreased lipoic acid

•

en:decreased cytochrome c oxidase staining

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:cox-deficient fibers

•

en:complex v deficiency

•

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

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:axial hypotonia (in some patients)

•

en:autophagic rimmed vacuoles

•

en:atrophy of upper girdle muscles

•

en:atrophy of type 1 and type 2 fibers

•

en:atrophy of the small muscles in the hands and feet

•

en:areflexia due to muscle weakness

•

en:adiposis on mri

•

en:weak extraocular muscles

•

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

•

en:generalized muscle weakness (less common)

•

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

•

en:abnormal axons with sprouting and swelling

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

en:degenerating mitochondria

•

en:fibrillations in affected muscles

•

en:gait, drop foot

•

en:familial generalized lipodystrophy

•

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

•

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

•

en:electromyographic decrements in some muscles

•

en:electromyogram abnormal

•

en:edematous hands and feet (1 patient)

•

en:fiber type grouping

•

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

•

en:disorganization of the neuromuscular junction

•

en:distal muscle wasting due to peripheral neuropathy

•

en:difficulty raising arms

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:difficulty rising from chair

•

en:distal amyotrophy (hands and feet)

•

en:distal muscles may be affected

•

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

•

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

•

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

•

en:muscle wasting due to chronic denervation

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle fibers appear as fetal myotubules

•

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

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:muscle atrophy, mild

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle aches, cramps

•

en:mri may show cervical spinal cord atrophy

•

en:minicores (in some)

•

en:mild variability in muscle fiber size

•

en:mild muscular hypotonia

•

en:lymphedema of the hands (in some patients)

•

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

•

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

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:muscle weakness and atrophy, progressive

•

en:poor musculature

•

en:ragged-red fibers seen on muscle biopsy

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:quadriceps aplasia

•

en:pseudohypertrophy of muscle

•

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

•

en:presynaptic defect at the neuromuscular junction

•

en:predominance of oxidative fibers

•

en:positive staining for atpase activity at ph of 4.3

•

en:poor head control in infancy

•

en:myofibrillar lesions

•

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

•

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

•

en:painful adipose tissue

•

en:normal phosphorylase kinase activity in muscle

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:neck and proximal limb muscle myopathy

•

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

•

en:myopathy seen on emg

•

en:myofibril destruction (in some patients)

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:lipid storage, mainly in type i fibers

•

en:congophilic amyloid material

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased atp production

•

en:decreased activity of mitochondrial complexes i and iv

•

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

•

en:cox-depleted fibers

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:congophilic staining

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:buffalo hump

•

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

•

en:attacks precipitated by rest after exercise

•

en:attacks last 4 to 24 hours

•

en:angulated atrophic muscle fibers

•

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

•

en:abnormal subcutaneous fat tissue distribution

•

en:'sloping' shoulders due to muscle atrophy

•

en:respiratory distress (congenital form)

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

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

•

en:hip girdle muscle atrophy

•

en:infantile muscular hypotonia

•

en:independent walking may not be achieved

•

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

•

en:increased muscle tone in the lower limbs

•

en:increased muscle lipid content

•

en:inability to jump or squat

•

en:hypotonia (in some patients)

•

en:hypothenar muscle atrophy

•

en:hypertonia in infancy

•

en:gait abnormalities (occurs later)

•

en:distal muscle weakness, upper and lower limbs

•

en:fragmented mitochondrial network

•

en:fiber type variation

•

en:fiber size variation seen on muscle biopsy

•

en:fatty infiltration of affected muscles

•

en:fatty deposition

•

en:emg shows myopathic pattern

•

en:emg may showed myotonic discharges

•

en:electromyography shows myotonic discharges

•

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

•

en:rectus medial atrophy

•

en:wasting of calf muscles (rare)

•

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

•

en:muscle cramp

•

en:necrotic and regenerating fibers

•

en:myotonia is usually not seen

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myogenic profile on electromyography

•

en:muscle weakness restricted to the upper limb

•

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

•

en:muscle weakness may affect upper limbs

•

en:muscle wasting in lower limbs

•

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

•

en:normal neonatal period may occur before weakness is apparent

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

en:mild weakness

•

en:mild atrophy of the proximal lower limbs

•

en:lymphedema of lower extremity

•

en:lymphangiectasia

•

en:lipohypoplasia, regional

•

en:lipoatrophy, generalized

•

en:limb muscular atrophy

•

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

•

en:no staining for oxidative enzymes

•

en:increased muscle glycogen content

•

en:severe muscular hypotonia

•

en:wrist swelling

•

en:weakness of anterior compartment tibial muscles

•

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

•

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

•

en:type 2 muscle fiber atrophy

•

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

•

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

•

en:small atrophic muscle fibers

•

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

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:secondary myopathic changes

•

en:sarcoplasmic inclusions

•

en:proximal weakness

•

en:proximal muscle weakness (occasional)

•

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

•

en:progressive proximal muscle involvement

•

en:preserved junctional folds

•

en:poor muscle build

•

en:polyglucosan accumulation

•

en:large lipid droplets

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:increased internal nuclei (in some patients)

•

en:widening of the synaptic cleft

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

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

•

en:cytochrome-c oxidase deficiency

•

en:congenital absence of gluteal muscles

•

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

•

en:atrophic calf muscles

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:decreased secondary clefts

•

en:type ii fiber predominance

•

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

•

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

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:some abnormal aggregation of mitochondria

•

en:soft tissue or tendinous calcinosis may occur

•

en:small endplate

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

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

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:decremental muscle response to repetitive nerve stimulation

•

en:fatty degeneration of muscle seen on mri

•

en:increased glycogen

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:increased connective tissue and fat in muscles

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotonia, neonatal, severe (hcs)

•

en:handgrip myotonia

•

en:generalized weakness (adult-onset)

•

en:focal loss of cross striations seen on muscle biopsy

•

en:fatty infiltration

•

en:inability to run

•

en:exercise capacity decreased

•

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

•

en:emg shows increased insertion activity and fibrillation

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:electron microscopy showed z-disk streaming

•

en:degrading mitochondria

•

en:dysphonia

•

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

•

en:distal limb muscle weakness occurs later

•

en:exercise-induced muscle fatigue

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:fatty infiltration seen on muscle biopsy

•

en:fat pad anterior to malleolus

•

en:flaccid neck

•

en:global muscle weakness

•

en:heterotopic bone formation in subcutaneous fat

•

en:increased centralized internal nuclei

•

en:hyporeflexia in affected muscles

•

en:hypotonia, mild

•

en:hypotonia (1 patient)

•

en:increased fibrosis

•

en:increased internal nuclei seen on muscle biopsy

•

en:increased number of small endplates

•

en:edema at birth

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:emg shows chronic denervation

•

en:disruption of the m-line

•

en:dystrophic features seen on muscle biopsy

•

en:degenerating fibers

•

en:lipid droplet accumulation

•

en:decreased exercise tolerance

•

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

•

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

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:deep finger muscle weakness

•

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

•

en:disuse atrophy

•

en:distal limb muscle weakness (less common)

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal lower limb anterior compartment weakness

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:distal muscle weakness, affecting the lower limbs

•

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

•

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

•

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

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:loss of achr

•

en:small nerve terminals

•

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

•

en:recovery between attacks

•

en:rigidity (uncommon)

•

en:shortened open channel duration

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:skeletal muscle weakness

•

en:small type ii fibers

•

en:prolonged achr channel opening episodes

•

en:triceps aplasia

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:z-disks with abnormal homogeneous material

•

en:erythrocyte lactate transporter defect

•

faiblesse de muscle

•

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

•

en:primarily affects lower limbs

•

en:mild muscle weakness

•

en:muscle cramps may affect jaw muscles

•

en:minicores extend full fiber diameter

•

en:mitochondrial myopathy, severe

•

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

•

en:mri shows fatty infiltration of affected muscles

•

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

•

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

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:postexercise cmap amplitude facilitation

•

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

•

en:muscle weakness begins proximally

•

en:myofibrillar disorganization

•

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

•

en:necrotic changes (finding)

•

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

•

en:poor head control

•

en:cranial muscles spared

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119482 • caches: c1=8 c2=1003 c3=1

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