[Sarcoglycanopathies: state of the art and therapeutic perspectives].

Abstract excerpt

Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with more or less severe cardio-respiratory impairment and a marked...

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