Le Diko - en:disarray of mitochondrial cristae seen on muscle biopsy

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Le Diko - en:disarray of mitochondrial cristae seen on muscle biopsy

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en:disarray of mitochondrial cristae seen on muscle biopsy

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:axial muscle weakness

•

en:small rounded fibers

•

en:abnormal jitter

•

en:decreased coenzyme q10

•

en:increased length of endplate regions seen on muscle biopsy

•

en:lipodystrophy

•

en:muscle wasting, severe, primarily in the legs

•

en:myasthenic syndrome (hcs)

•

en:muscle weakness, upper and lower limbs

•

en:humeroperoneal weakness and atrophy

•

en:loose connective tissue

•

en:lower limbs more often affected

•

en:muscle weakness, proximal, slowly progressive

•

en:prominent musculature

•

en:reduced subcutaneous adipose tissue

•

en:scapuloperoneal amyotrophy

•

en:shoulder muscle weakness

•

en:nemaline bodies (rods) on gomori trichrome staining 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:calcific tendinitis

•

en:distal limb muscle atrophy, lower more than upper

•

en:facial muscle atrophy of involved side

•

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

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:angulated atrophic fibers

•

en:exercise-induced myalgia

•

en:fatty degeneration of muscle seen on mri

•

•

en:lymphedema of lower extremity

•

en:sarcomere disappearance seen on muscle biopsy

•

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

•

en:proximal and distal muscle atrophy in lower limbs

•

en:electron microscopy showed z-disk streaming

•

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

•

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

•

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

•

en:necrotic fibers

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:multiple mitochondrial dna deletions

•

en:hypotonia (untreated hypothyroidism)

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:emg shows reduction of voluntary recruitment

•

en:cores contain densely packed myofilaments

•

en:central cores seen on muscle biopsy

•

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

•

en:exercise intolerance (cvs+)

•

en:decreased hand grip strength

•

en:emg shows myopathic or neurogenic changes

•

en:facial muscle weakness and atrophy, progressive

•

en:gait, drop foot

•

en:lower and upper limbs affected

•

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

•

•

en:nemaline bodies are rarely intranuclear

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

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

•

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

•

en:abnormal muscle tone

•

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:muscle weakness (cvs+)

•

en:abnormal axons with sprouting and swelling

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:atrophy of shins

•

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

•

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

•

en:muscular hypotonia of the trunk

•

en:myopathy with abnormal lipid metabolism

•

en:abnormal sarcoplasmic reticulum elements

•

en:angulated atrophic muscle fibers

•

en:hypoplasia of supraspinatus muscle

•

en:merosin-positive biopsy

•

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

•

en:muscle biopsy shows mild dystrophic changes

•

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

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:premature exertional muscle weakness

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:prominent veins, lower limbs

•

en:congophilic deposits

•

en:decreased activity of mitochondrial complex iii

•

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

•

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

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:endplate abnormalities

•

en:muscle amyotrophy

•

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

•

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

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:increased fatigue

•

en:muscle fiber necrosis

•

en:poor muscle bulk

•

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

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:degenerative changes with increased connective tissue

•

en:loss of facial adipose tissue

•

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

•

en:attacks precipitated by potassium

•

en:congophilic inclusions

•

en:abnormal iron deposition in mitochondria

•

en:mitochondrial myopathies

•

en:muscle activity is electrically silent on emg

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle pain and cramping on exertion

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:type 2 muscle fiber predominance

•

en:muscle weakness of limb

•

en:decreased mitochondrial complex v activity

•

en:generalized muscular appearance from birth

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:loss of subcutaneous fat

•

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

•

en:muscle cramps may affect jaw muscles

•

en:myofibromatosis

•

en:myotonia is most pronounced in the extremities

•

en:focal loss of cross striations seen on muscle biopsy

•

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

•

en:decreased achr

•

en:abnormal jitter seen on emg

•

en:proximal muscle involvement may occur

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:decreased atp production

•

en:large hypertrophied fibers

•

en:fat accumulation in the suprabuttock area

•

en:degenerating fibers

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:distal muscle weakness, occurs initially

•

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

•

en:skeletal muscle weakness

•

en:fibrillations in affected muscles

•

en:proximal muscle weakness (occasional)

•

en:generalized weakness (adult-onset)

•

en:underdeveloped muscles (in some patients)

•

en:tubular aggregates (in some patients)

•

en:rhabdomyolysis may occur

•

en:umbilical hernia

•

en:myopathic findings on biopsy have been occasionally reported

•

en:infantile axial hypotonia

•

en:handgrip myotonia

•

en:hamstring and quadriceps muscles mildly affected

•

en:gowers sign (in some patients)

•

en:severe disability within 20 years of onset

•

en:presynaptic defect at the neuromuscular junction

•

en:scattered necrotic fibers

•

en:rhabdomyolysis with exercise (in older patients)

•

en:relative sparing of the rectus femoris

•

en:reduced lower limb subcutaneous fat

•

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

•

en:proximal muscles more often affected

•

en:prolonged endplate currents

•

en:progressive muscle weakness

•

en:myopathic features seen on emg

•

en:plantar fibromatosis

•

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

•

en:normal or increased adipose tissue around the neck

•

en:normal muscle fiber (hcs)

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:nemaline bodies

•

en:shortening of flexor profundus muscle-tendon unit

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:myofibrillar lesions

•

en:myalgia with febrile episodes (rare)

•

en:shortened open achr channel duration

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:shoulder muscle weakness (in some patients)

•

en:attacks precipitated by cold temperature

•

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

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:decreased shank muscle mass

•

en:decreased mitochondrial respiratory complexes i and iv

•

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

•

en:decreased collagen vi

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:cellulitis in lower limbs, recurrent

•

en:calf hypertrophy (less common)

•

en:calf hypertrophy (early in the disease)

•

en:amyotrophy, distal, upper and lower limbs

•

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

•

en:adiposis on mri

•

en:abnormal distribution of subcutaneous fat

•

en:abdominal muscle hypoplasia

•

en:muscle soft, tissue

•

en:z-line streaming see on electron microscopy

•

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

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:muscle weakness and atrophy, progressive

•

en:triceps weakness

•

en:symmetrical muscle wasting

•

en:skeletal muscle biopsy shows reducing bodies

•

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

•

en:muscles do not contract upon electrical stimulation

•

en:muscle weakness (1 patient)

•

en:centralized nuclei, rare

•

en:difficulty running and jumping

•

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

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:decreased numbers of type 2b fibers

•

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

•

en:decreased muscle density on imaging

•

en:decreased mitochondria

•

en:decreased complex i activity (rare)

•

en:decreased achr at the endplate

•

en:cox-depleted fibers

•

en:carpopedal spasm

•

en:emg shows fibrillations

•

en:calf hypertrophy (reported in 1 family)

•

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

•

en:biopsy shows defects in pyruvate oxidation

•

en:attacks precipitated by rest after exercise

•

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

•

en:atrophy of neck muscles may occur later

•

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

•

en:abnormal fatigue

•

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

•

en:difficulty running

•

en:distal muscle wasting, mild

•

en:endomysial fibrosis

•

en:muscle weakness, proximal more than distal

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows increased variation in fiber size

•

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

•

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

•

en:minicores or core-like regions may be present

•

en:mild variability in muscle fiber size

•

en:mild muscular hypotonia

•

en:lower limbs more affected than upper limbs

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:involves upper and lower proximal muscles

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:increased visceral fat

•

en:increased muscle tone in the lower limbs

•

en:increased mitochondria seen on muscle biopsy

•

en:increased echo intensity in affected muscles

•

en:increased connective tissue and fat

•

en:hypotonia from birth to age 12

•

en:haemorrhage subcutaneous

•

en:generalized amyoplasia

•

en:gait abnormalities (occurs later)

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:facial edema

•

en:diastasis recti

•

en:increased fatty and connective tissue in skeletal muscle

•

en:difficulty walking, running, climbing stairs

•

en:myotonic discharges

•

en:quadriceps atrophy

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness, limb-girdle distribution

•

en:prolonged achr channel opening episodes

•

en:peroneal muscle atrophy

•

en:pectoralis major hypoplasia

•

en:painful muscle cramps

•

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

•

en:neonatal hypotonia

•

en:nemaline rods (in some patients)

•

en:myopathic changes seen muscle biopsy

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:myofibroma (in 1 patient)

•

•

en:muscle weakness (hcs)

•

en:muscle weakness, predominantly proximal

•

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

•

en:muscle weakness, congenital

•

en:muscle wasting (especially legs and arms)

•

en:muscle pain after exercise

•

en:muscle hypotonia

•

en:muscle biopsy shows ragged red fibers

•

en:quadriceps muscle spared

•

en:reduced muscle mass

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:subsarcolemmal mitochondrial aggregates

•

en:weakness of neck extensors (rare)

•

en:variable fiber size

•

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

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:type 1 fiber predominance

•

en:difficulty walking and climbing stairs (patient a)

•

en:thickening of fascia of forearm

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:subcutaneous edema

•

en:reduced muscle tone

•

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

•

en:soft fleshy palms (50%)

•

en:small nerve terminals

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shoulder girdle muscle atrophy

•

en:shortened open channel duration

•

en:severe form shows absence of spontaneous activity at birth

•

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

•

en:sarcoplasmic inclusions

•

•

en:relative sparing of the tibialis anterior

•

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

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:fiber-type variability

•

en:hypotonia, axial, severe

•

en:hyporeflexia or areflexia

•

en:hypoplasia of the hand muscles (29%)

•

en:group fiber atrophy (in some patients)

•

en:gluteus maximus and thigh adductors most affected

•

en:global muscle weakness

•

en:generalized muscle weakness, proximal and distal

•

en:foot extensor muscle weakness (later onset)

•

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

•

en:fiber size variation

•

en:familial generalized lipodystrophy

•

en:hypotonia (patients a and c)

•

en:enteroviral dermatomyositis syndrome

•

en:enlarged mitochondria

•

en:emg shows chronic denervation

•

en:edema of dorsum of hands and feet

•

en:easy fatigue

•

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

•

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

•

en:distal lower limb muscle weakness and atrophy

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:disruption plasma membrane (in some patients)

•

en:hypotonia, neonatal and later

•

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

•

en:hypotrophy of type 1 fibers

•

en:mild muscle weakness

•

en:increased endo- and perimysial connective tissue

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle atrophy (variable)

•

en:muscle aches, intermittent

•

•

en:mitochondria show paracrystalline inclusions

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mitochondrial proliferation

•

en:mitochondrial dna depletion, severe

•

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

•

en:muscle atrophy, upper and lower limbs

•

en:marked muscular hypertrophy

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:increased mitochondria with abnormal cristae

•

en:increased perisarcolemmal calcium deposition

•

en:increased lipid

•

en:lack of facial subcutaneous fat

•

en:lymphedema (lower limb)

•

en:lymphedema of the extremities

•

en:muscle biopsy shows atrophy

•

en:lymphangiectasia

•

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

•

en:muscle biopsy shows centralized nuclei

•

en:muscle strength and bulk is preserved

•

en:muscle mri shows fatty infiltration

•

en:muscle hypertrophy of the lower extremities

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

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

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:increased fatty infiltration

•

en:inguinal hernia

•

en:mitochondrial paracrystalline inclusion bodies

•

en:increased muscle tone (early in life)

•

en:macroglossia

•

en:lymphedema of lower limbs (in some patients)

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:loss of antigravity strength

•

en:limb weakness, proximal followed by distal

•

en:mitochondrial dna deletion (1 patient)

•

en:poor exercise tolerance

•

en:muscle weakness, severe, proximal and distal

•

en:proximal limb muscle weakness (occurs later)

•

en:smooth muscle may also become involved

•

en:increased connective tissue

•

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

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:scapular muscle weakness

•

en:repetitive action potentials in response to single nerve stimulation

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal muscle weakness in upper limbs

•

en:proximal muscle weakness (in some patients)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:muscle weakness and atrophy

•

en:positive staining for atpase activity at ph of 4.3

•

en:pelvic girdle muscle weakness (occurs earlier)

•

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

•

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

•

en:nemaline rod formation

•

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

•

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

•

en:muscular fasciculation

•

en:muscle weakness due to peripheral neuropathy

•

en:increased falls

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:inclusions are tdp43-immunoreactive

•

en:chronic denervation/reinnervation seen on emg

•

en:decreased postsynaptic length

•

en:decreased activities of complexes i and iv

•

en:cytochrome c oxidase-negative fibers

•

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

•

en:congenital fiber type disproportion

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:chronic neurogenic changes seen on emg

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:cellulitis or infection may occur

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:axial weakness

•

en:atrophy of the thenar and hypothenar muscles

•

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

•

en:ascites (in some patients)

•

en:angular fibers (in some patients)

•

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

•

en:abnormal z bands

•

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

•

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

•

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

•

en:degenerating mitochondria

•

en:immunoreactivity for z-disk proteins

•

en:emg shows myopathic pattern

•

en:hypotonia, generalized, severe

•

en:hypothenar muscle atrophy

•

en:hyporeflexia

•

en:hypertonia in infancy

•

en:granular deposits in the sarcomeres

•

en:gowers sign (patient a)

•

en:generalized hypotonia

•

en:enlarged nuclei with central pallor

•

en:edema reoccurs with infections

•

en:denervation of skeletal muscles

•

en:easy bruisability of lower extremities

•

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

en:distal muscle weakness, mild

•

en:distal atrophy of the legs

•

en:distal amyotrophy

•

en:difficulty walking, running

•

en:difficulty raising arms

•

en:structurally abnormal mitochondria

•

en:generalized neonatal hypotonia

•

en:thin musculature

•

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

•

en:muscle spasticity

•

en:muscle rigidity

•

en:muscle mounding

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows grouped atrophy

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

en:multi-core congenital myopathy

•

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

•

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

•

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

•

en:marked variability of fiber size

•

en:loss of subcutaneous fat, generalized

•

en:loss of sarcomeric striations

•

en:lipoatrophic appearance

•

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

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:intracellular granular osmiophilic deposits

•

en:muscle wasting, progressive

•

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

•

en:increased subcutaneous truncal adipose tissue

•

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

•

•

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

•

en:variability in fiber size

•

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

•

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

•

en:truncal hypotonia (family a)

•

en:toe and foot dorsiflexor weakness

•

en:tenderness of lower extremities

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:patients achieve independent ambulation, but may lose it

•

en:shortening of various muscle-tendon groups in legs

•

en:rimmed vacuoles on biopsy

•

en:retroperitoneal fibrosis (rare)

•

en:pyruvate oxidation defect

•

en:proximal muscles may be mildly affected

•

en:proximal limb muscle weakness initially

•

en:progression to proximal muscle weakness

•

en:predominantly lower limb lymphedema

•

en:poor muscle mass

•

en:inflammatory cells absent

•

en:tubular aggregates seen on biopsy

•

en:increased muscle tone at birth

•

en:cox-negative fibers

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased postsynaptic achr

•

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

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased muscle mass

•

en:decreased muscle action potential after warming affected muscle

•

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

•

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

•

en:biopsy shows degenerative changes consistent with myopathy

•

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

•

en:atrophic muscle fiber on biopsy

•

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

•

en:abnormal irregular myofibrillar network

•

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

•

en:'hanging' big toe

•

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

•

en:upper and/or lower limbs may be affected

•

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

•

en:tubulofilamentous inclusions

•

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

•

en:cytoplasmic inclusion bodies (finding)

•

en:degenerating junctional folds

•

en:fatty infiltration

•

en:difficulty walking

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypertonicity of the lower limbs

•

en:hypertonia at birth

•

en:glycogen depletion in skeletal muscle

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:gait abnormality

•

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

•

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

•

en:inclusions are dnajb6-immunoreactive

•

en:fasciculations (less common)

•

en:edema at birth

•

en:distal limb muscle atrophy (less common)

•

en:distal muscle atrophy due to neurologic disease

•

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

•

en:increased fibrosis (in some patients)

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:exertional leg pain

•

en:facial diplegia

•

en:exercise-induced muscle fatigue

•

en:poor head control in infancy

•

en:rare necrotic fibers

•

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

•

en:quadriceps atrophy (later onset)

•

en:quadriceps aplasia

•

en:proximal muscle weakness, lower limbs, mild

•

en:proximal and distal muscle atrophy

•

en:prominent involvement of the biceps brachii muscles

•

en:preserved junctional structure seen on muscle biopsy

•

en:no muscle fiber necrosis

•

en:polymyositis

•

en:patients may have distal or proximal muscle weakness, or both

•

en:normal or increased facial and neck adipose tissue

•

en:normal lamp2 staining (309060)

•

en:rimmed vacuoles

•

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

•

en:myopathy seen on emg

•

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

•

en:myalgia, episodic

•

en:muscle weakness (type i)

•

en:nonspecific myopathy seen on biopsy

•

en:atrophy of upper girdle muscles

•

en:rimmed vacuoles with basophilic granular material

•

en:z-disk degeneration

•

en:muscle weakness, mainly proximal and axial

•

en:atrophy of type 1 and type 2 fibers

•

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

•

en:atrophic fibers seen on biopsy

•

en:aggregates contain granular electron-dense material

•

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

•

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

•

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

•

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

•

en:weak extraocular muscles

•

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

•

en:weakness of ankle plantar flexion

•

en:variation of fiber size and shape

•

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

•

en:ubiquinone decreased

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:thickened subcutaneous tissue

•

en:thenar amyotrophy (rare)

•

en:sparing of the anterior tibial compartment

•

en:muscle weakness, proximal, limb-girdle

•

en:exercise-induced weakness

•

en:muscle weakness, distal (in some patients)

•

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

•

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

•

en:disruption of sarcomeres with disorganization of the z band

•

en:difficulty climbing stairs, jumping, running

•

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

•

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

•

en:decreased muscle mass (especially of limbs)

•

en:decreased muscle mass, especially distally

•

en:decreased coenzyme q10 levels in muscle

•

en:congenital, nonprogressive myopathy

•

en:emg consistent with chronic neurogenic disorder

•

en:cold sensitivity has been reported

•

•

en:axial muscle hyperextension, episodic

•

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

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:amyotrophy, neurogenic

•

en:absence of muscle pseudohypertrophy

•

en:'sloping' shoulders due to muscle atrophy

•

en:axial hypotonia (in some patients)

•

en:distal muscle atrophy, predominantly lower limbs

•

en:emg may showed myotonic discharges

•

en:muscle coenzyme q deficiency

•

•

en:muscle biopsy shows rimmed vacuoles

•

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

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy, mild

•

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

•

en:mri shows fatty replacement

•

en:lymphedema of the hands (in some patients)

•

en:lymphedema, dorsa of feet

•

en:loss of gluteal adipose tissue

•

en:limb-girdle muscle weakness (2 families)

•

en:endplate myopathy

•

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

•

en:increased staining for myotilin, dystrophin, desmin

•

en:hypotonia (2 patients)

•

en:hypotonia, infantile, severe

•

en:hypoplasia of infraspinatus muscle

•

en:head drop due to neck muscle weakness

•

en:glycogen deficiency in muscle fibers

•

en:focal loss of cross- striations

•

en:fatty infiltration of affected muscles

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:calf muscle hypoplasia

•

en:a subset of patients develop bilateral weakness

•

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

•

en:muscular atrophy

•

en:muscle weakness begins proximally

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, severe

•

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

•

en:muscle weakness, limb-girdle, mild

•

en:muscle wasting in lower limbs

•

en:muscle hypertonia

•

en:muscle hematoma

•

en:muscle biopsy shows myopathic changes

•

en:myogenic profile on electromyography

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows dystrophic features

•

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondrial dna depletion (in some)

•

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

•

en:mild distal muscle atrophy

•

en:mildly increased mtdna

•

•

•

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

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:weakness of anterior compartment tibial muscles

•

en:variation in skeletal muscle fiber diameter

•

en:type 2 muscle fiber atrophy

•

en:buffalo hump (rare)

•

en:swelling of the affected areas

•

en:slowly progressive limb-girdle myopathy

•

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

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:rigidity (uncommon)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:potassium sensitivity has been reported

•

en:pharyngeal muscle weakness

•

en:pelvic muscle involvement occurs later

•

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

•

en:painful swelling in fasciae

•

en:onset of lymphedema around puberty

•

en:no muscle weakness

•

en:normal or increased abdominal adipose tissue

•

en:marked lack of adipose tissue

•

en:type 2 fiber hypertrophy

•

en:lymphedema, hands (rare)

•

en:distal amyotrophy (hands and feet)

•

en:easy fatigability

•

en:dystrophic features seen on muscle biopsy

•

en:dystrophic changes occur later

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:disruption of the m-line

•

en:electromyographic decrements in some muscles

•

en:difficulty walking up stairs

•

en:deposits immunoreactive to beta-amyloid protein

•

en:decreased distal reflexes

•

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

•

en:decreased activity of complexes ii+iii

•

en:cranial muscles spared

•

en:cores or minicores

•

en:centrally nucleated skeletal muscle fibers

•

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

•

en:electromyogram abnormal

•

en:contractures of distal lower limbs

•

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

•

en:increased fat and fibrous tissue

•

en:loss of ambulation between third and sixth decade

•

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

•

en:lipohypoplasia, regional

•

en:lipid and glycogen accumulation

•

en:internal nuclei (in some patients)

•

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

•

en:increased intramuscular fat

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

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

•

en:increased connective tissue and fat in muscles

•

en:hypotonia (patient b)

•

en:generalized amyotrophy

•

en:increased central nucleation

•

en:heterotopic bone formation in subcutaneous fat

•

en:generalized muscle weakness

•

en:hypotrophic type 2 muscle fibers

•

en:impaired heel-walking

•

en:impaired toe-walking

•

en:increased centralized internal nuclei

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:muscle wasting due to chronic denervation

•

en:muscle paralysis, episodic

•

en:muscle pain (less common)

•

en:muscle fiber splitting

•

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

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows glycogen storage

•

en:loss of adipose tissue occurs around puberty

•

en:muscle biopsy shows dystrophic changes

•

en:muscle atrophy in the limbs

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

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

•

en:mtdna depletion seen on muscle biopsy

•

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

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:loss of subcutaneous adipose tissue in limbs

•

en:muscle weakness, particularly of the lower limbs

•

en:preserved heel standing

•

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

•

en:proximal muscle weakness occurs later

•

•

en:replacement of affected muscle tissue with fatty tissue

•

en:repetitive response to single nerve stimulation

•

en:reduced muscle tone but normal power

•

en:rectus abdominis muscle separation

•

en:quadriceps weakness

•

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

•

en:proximal upper limb amyotrophy

•

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

•

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

•

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

•

en:painful swelling in aponeuroses

•

en:nonspecific muscle fiber atrophy

•

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

•

en:neonatal hypertonias

•

en:necrosis and degeneration seen on muscle biopsy

•

en:neck muscle hypoplasia

•

en:myofibril destruction (in some patients)

•

en:muscle weakness is not a feature

•

en:loss of ability to walk in early childhood

•

en:distal limb muscle weakness, lower more than upper

•

en:lipid droplets seen on muscle biopsy

•

en:cores extend along length of muscle fiber

•

en:decreased secondary clefts

•

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

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased expression of the vdac1 protein

•

en:decreased activity of mitochondrial complex i

•

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

•

en:decreased achilles reflex

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

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

•

en:biopsy shows myopathic and dystrophic changes

•

en:atrophy, neurogenic muscular

•

en:areflexia of lower limbs

•

en:ankle reflex absent

•

•

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

•

en:abnormal fiber size variation

•

en:skeletal muscle may show less severe mtdna deletion

•

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

•

en:difficulty standing

•

en:limb-girdle muscle weakness

•

en:foot dorsiflexor weakness

•

en:increased muscle lipid content

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:hypotonia, profound

•

en:hypoplasia of muscle

•

en:hip girdle muscle atrophy

•

en:hand and foot weakness

•

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:fiber size variation (in some patients)

•

en:distal muscle weakness due to neuropathy

•

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

•

en:fasciculations (in some patients)

•

en:exertional fatigue

•

en:exercise-induced muscle cramps

•

en:emg shows high-frequency spontaneous discharges

•

en:dystrophic skeletal muscle seen on biopsy

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:dystrophic changes may be present

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:z-disk streaming

•

en:skeletal muscle shows dystrophic changes

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:necrotic muscle fibers

•

en:myopathy (in some patients)

•

en:myopathic changes early in disease seen on emg

•

en:muscle weakness, variable

•

en:muscle pain with exercise (in older patients)

•

en:muscle fiber splitting (in some patients)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle atrophy, progressive

•

en:neuropathic process seen on muscle biopsy

•

en:muscle atrophy, mild, more proximal than distal

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mri shows fatty infiltration of affected muscles

•

en:mitochondrial complex iii deficiency (disorder)

•

•

en:lower limb muscle atrophy

•

en:lipomas or lipomatous masses (most cases)

•

en:lipoatrophy, generalized

•

en:nemaline bodies occur in type 1 fibers

•

en:normal or increased truncal adipose tissue

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

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

•

en:small or absent axon terminals

•

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

•

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

•

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

•

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

•

en:tubular aggregates seen on muscle biopsy

•

•

en:subsarcolemmal lipofuscin-positive deposits

•

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

•

en:polyglucosan accumulation

•

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

•

en:small type ii fibers

•

en:small atrophic muscle fibers

•

en:slim, muscular build (in some patients)

•

en:shoulder girdle weakness

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced ankle dorsiflexion

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:lipid droplet accumulation

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

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

•

•

en:decreased or absent ankle reflexes

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle bulk (in one patient)

•

en:central nuclei

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophy, mild (in some cases)

•

en:asymmetric muscle involvement

•

en:anterior tibial muscles first involved

•

en:winged scapula

•

en:deglutition disorders

•

en:vacuoles in the myofiber cytoplasm

•

en:umbilical depression

•

en:type 2 fiber predominance

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:toe-walking gait

•

en:thenar muscle atrophy

•

en:increased number of small endplates

•

en:subsarcolemmal mitochondrial accumulation

•

en:decreased quantal release

•

en:areflexia due to muscle weakness

•

en:denuded postsynaptic regions

•

en:emg shows neurogenic changes

•

en:increased muscle glycogen content

•

en:increased fatigability

•

en:distal muscles may be affected

•

en:inability to stand on tiptoes

•

en:generalized muscle hypertrophy

•

en:floppy infant syndrome

•

en:fiber type grouping

•

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

•

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

•

en:fiber-type grouping pattern

•

en:emg shows myopathy

•

en:disuse atrophy

•

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

•

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

•

en:distal muscle weakness may occur

•

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

•

en:easily fatigued (finding)

•

en:edema, generalized

•

en:emg shows increased insertion activity and fibrillation

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:congenital muscular dystrophy (disorder)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

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

•

en:decreased caveolae in muscle tissue

•

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

•

en:decreased numbers of achr

•

en:centralized myonuclei

•

en:degenerate mitochondrial on em

•

en:degenerating nerve terminals

•

en:depletion of mitochondrial dna

•

en:generalized muscle weakness (less common)

•

en:distal muscle weakness, affecting the lower limbs

•

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

•

en:emg shows fasciculations

•

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

•

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

•

en:fiber type variation seen on biopsy

•

en:finger and wrist extensor weakness

•

en:gastrocnemius and soleus muscles most affected

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

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

•

en:hip flexor weakness

•

en:calf muscle enlargement

•

en:shoulder weakness and atrophy

•

en:biopsy shows dystrophic changes

•

en:tubular aggregates mainly in type 1 fibers

•

en:hypotonia, severe, neonatal

•

en:proximal muscle weakness (120270.0002)

•

en:pseudohypertrophy of muscle

•

en:rounded, atrophic fibers (family a)

•

en:small atrophic fibers (in some patients)

•

en:small endplate

•

en:some abnormal aggregation of mitochondria

•

•

en:stiffness (uncommon)

•

en:tremor of the upper limb

•

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

•

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

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:walking may be limited

•

en:weakness of all intrinsic hand muscles (later)

•

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

•

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

•

en:z-band streaming

•

en:absence of myotonia in infancy (congenital form)

•

en:absence of telethonin protein

•

en:amorphous granulofilamentous material associated with z-discs

•

en:hypoplasia of cervical paravertebral muscles

•

en:shoulder weakness

•

en:increased internal nuclei seen on muscle biopsy

•

en:repetitive response to single nerve stimulus

•

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

•

en:normal neonatal period may occur before weakness is apparent

•

en:normal respiratory chain studies seen on muscle biopsy

•

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

•

en:postexercise cmap amplitude facilitation

•

en:primarily affects lower limbs

•

en:proximal amyotrophy

•

en:proximal muscle weakness

•

en:proximal myopathy

•

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

•

en:rhabdomyolysis (in some patients)

•

en:nerve conduction studies normal

•

en:secondary loss of merosin and desmin

•

en:secondary myopathic changes

•

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

•

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

•

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

•

en:tendon tears

•

en:transient neonatal hypotonia (less common)

•

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

•

en:vacuoles are autophagocytic

•

oedème

•

en:neurogenic changes seen on emg and biopsy

•

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

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:large lipid droplets

•

•

en:limb-girdle muscle atrophy

•

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

•

en:limb-girdle muscular dystrophy

•

en:limb hypertonia

•

en:lipoatrophy of trunk

•

en:loss of ambulation

•

en:minicores extend full fiber diameter

•

en:minimal subcutaneous fat

•

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

•

en:myopathy in approximately 45% of patients

•

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

•

en:muscle atrophy (in some patients)

•

en:muscle biopsy shows chronic and active denervation

•

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

•

en:muscle cramp

•

en:muscle fiber immaturity

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness (in some patients)

•

en:muscle weakness and atrophy, distal

•

en:myopathy, mild to severe

•

en:proximal muscle weakness, mild

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094432 • caches: c1=8 c2=1003 c3=1

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