Sarcoglycanopathies

Sarkoglykanopatier

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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