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

Rare disease

Projects

Including projects on subtypes.

No projects yet.