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.
MONDO:0016139
qualitative or quantitative protein defects in neuromuscular diseases
is_a
qualitative or quantitative defects of sarcoglycan
exact