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:
Adhalinopathies; Adhalinopathy, Primary; Alpha-Sarcoglycanopathies; Alpha-Sarcoglycanopathy; Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; LGMD2D; Limb-Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency; Muscular Dystrophy, Limb-Girdle, Type 2D; Sarcoglycanopathy; Adhalinopathies, Primary; Alpha Sarcoglycanopathies; Alpha Sarcoglycanopathy; Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2; Limb Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency; Primary Adhalinopathies; Primary Adhalinopathy