limb-girdle muscular dystrophy

limb-girdle muscular dystrophy
a group of disorders characterized by progressive weakness and wasting in the pelvic girdle (pelvifemoral muscular dystrophy) or shoulder girdle (scapulohumeral muscular dystrophy). It occurs in various subtypes, some of which are of autosomal dominant and others of autosomal recessive inheritance; the latter usually have onset by early adulthood, while the former may have later onset. Progression ranges from rapid to very slow in different subtypes. The mutations causing many of the subtypes have been identified and include mutations in the genes encoding lamins A and C, calpain-3, myotilin, caveolin-3, dysferlin, telethonin, and several sarcoglycans. Called also Leyden-Mцbius muscular d. or syndrome.

Medical dictionary. 2011.

См. также в других словарях:

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