(Q27677718)

English

autosomal recessive limb-girdle muscular dystrophy type 2N

An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

  • LGMD2N
  • MDDGC2
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
  • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
  • Muscular Dystrophy, Limb-Girdle, Type 2N
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2

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