(Q27429768)

English

autosomal recessive limb-girdle muscular dystrophy type 2Y

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24

  • LGMD2Y
  • autosomal recessive muscular dystrophy due to LAP1B deficiency
  • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
  • muscular dystrophy with progressive weakness, distal contractures and rigid spine
  • muscular dystrophy, limb-girdle, type 2Y

Statements

Identifiers

 
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit
                  edit