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