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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.

Year introduced: 2011

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Tree Number(s): C05.651.534.500.280.500, C08.618.923, C10.668.491.175.500.149.500, C14.280.238.812, C16.320.577.280.500

MeSH Unique ID: D058088

Entry Terms:

  • 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

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