New classification of limb-girdle muscular dystrophy
نویسندگان
چکیده
A new classification of limb‑girdle muscular dystrophy, which was adopted in 2018, is given. The reasons why there a need to revise the are indicated. definition this pathology diseases that were excluded from dystrophy due inconsistency with form comparison and old group dystrophies genes responsible for development various forms indicated, as well proteins striated musculature, synthesis disrupted. It has been shown mutation one gene can lead different types inheritance important take into account when conducting prenatal diagnostics. will allow introducing mutations disease detected.
منابع مشابه
Limb Girdle Muscular Dystrophy (LGMD): Case Report.
We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs. Neurological examination revealed atrophy of both shoulders with wasting of both deltoids thinning of thighs and pseudo hypertrophy of both calves, hy...
متن کاملThe heart in limb girdle muscular dystrophy.
OBJECTIVE To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. DESIGN In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle muscular dystrophy, cardiac evaluation included history, physical examination, chest x ray, electrocardi...
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ژورنال
عنوان ژورنال: Nervno-myše?nye bolezni
سال: 2022
ISSN: ['2222-8721', '2413-0443']
DOI: https://doi.org/10.17650/2222-8721-2022-12-3-10-16