Sarcoglycanopathies D058088

Description

Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.   MeSH

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Organization Involved with Phase 2 Indications (2)

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