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Up to: Qualitative or quantitative protein defects in neuromuscular diseases

Sarcoglycanopathy

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.

3 trials tagged with this condition →