autosomal recessive limb-girdle muscular dystrophy type 2A (Q17177467)

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autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15
  • LGMD2A
  • Leyden-Moebius muscular dystrophy
  • limb-girdle muscular dystrophy due to calpain deficiency
  • muscular dystrophy, limb-girdle, type 2A
  • pelvofemoral muscular dystrophy
  • primary calpainopathy
  • Calpainopathy
  • calpain-3 deficiency
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Language Label Description Also known as
English
autosomal recessive limb-girdle muscular dystrophy type 2A
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15
  • LGMD2A
  • Leyden-Moebius muscular dystrophy
  • limb-girdle muscular dystrophy due to calpain deficiency
  • muscular dystrophy, limb-girdle, type 2A
  • pelvofemoral muscular dystrophy
  • primary calpainopathy
  • Calpainopathy
  • calpain-3 deficiency

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