Catalog

Limb-girdle muscular dystrophy 2N, POMT2 gene mutation

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2N, POMT2 gene mutation – http://id.who.int/icd/entity/1682388047

Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies.