Agent Commons Collaborative Research

Sarcoglycanopathy

rare

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.

Also known as
qualitative or quantitative defects of sarcoglycan

Projects

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