Diko : en:absence of telethonin protein

en:absence of telethonin protein

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1866022

Associations d'idées

[F]

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50+

en:z-disks with abnormal homogeneous material

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

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

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en:arm/shoulder muscle hypoplasia

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en:calf muscle enlargement

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en:decreased collagen vi

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

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en:forearm muscle weakness

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en:myofibrillar disintegration

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

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en:premature exertional muscle weakness

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

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

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

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en:decremental muscle response to repetitive nerve stimulation

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en:delayed motor development (cvs+)

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

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en:mtdna deletions seen on muscle biopsy

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en:muscle aches, intermittent

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en:predominantly lower limb lymphedema

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en:smooth muscle may also become involved

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en:abdominal wall muscle weakness (later onset)

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en:lipid storage, mainly in type i fibers

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en:muscle biopsy shows mitochondrial paracrystalline inclusions

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en:myotonia seen on emg

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en:shortening of flexor profundus muscle-tendon unit

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en:poor exercise tolerance

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en:absence of myotonia in infancy (congenital form)

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en:mitochondrial dna deletions (in some patients)

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en:muscle atrophy (variable)

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en:walking delay

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en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

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en:myopathic features seen on biopsy

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en:polyglucosan accumulation

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en:progression to proximal muscle weakness

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en:leg cramps may occur with exercise

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en:muscles do not contract upon electrical stimulation

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en:muscle weakness lower limb

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en:presynaptic defect at the neuromuscular junction

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en:quadriceps weakness

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en:reduced muscle tone but normal power

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en:short and thickened z-discs

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

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en:affected muscles show atrophy

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en:atrophy of type i fibers

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en:cox-negative fibers seen on muscle biopsy

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en:decreased atp production

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en:decreased numbers of type 2b fibers

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en:distal muscle atrophy, predominantly affecting the lower limbs

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

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50+

faiblesse de muscle

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en:muscle weakness

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en:paresis

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faiblesse du muscle

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faiblesse musculaire

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parésie

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paralysie générale

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parésie musculaire

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en:face edema

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oedème facial

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oedème de la face

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oedème du visage

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atrophie

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en:atrophy ▷?

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oedème

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en:edema

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fasciculation d'un muscle squelettique

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en:muscular fasciculation

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Oedème

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secousse musculaire

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en:twitching

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en:muscle twitch

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contraction clonique

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en:fasciculation

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en:general paresis

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lipome

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en:lipoma

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œdème

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en:dysphagia

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Autophagosome

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dysphagie

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autophagosome

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parésié

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spasme carpopédal

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dysphagia

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en:carpopedal spasm

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en:broad-based gait

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spasme carpo-pédal

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élargissement du polygone de sustentation

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en:wide-based gait

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bosse de bison

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empâtement de la nuque et du cou

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en:syphilitic meningoencephalitis

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en:buffalo hump

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en:oedema

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en:feebleness

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en:fibrillation

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fatigue musculaire

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hypotonie musculaire

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en:hypotonia

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Génériques

[F] [H]

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en:absence ▷?

•

en:absence of

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7117813 • caches: c1=86 c2=463 c3=2282

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