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