Preferred Label : Limb-girdle muscular dystrophy 2N, POMT2 gene mutation;
ICD-11 definition : 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.;
ICD-11 synonym : LGMD2N - limb-girdle muscular dystrophy 2N]; MDDGC2; Limb-girdle muscular dystrophy-dystroglycanopathy (type C2); Limb-girdle muscular dystrophy-dystroglycanopathy;
Origin ID : 1682388047;
Automatic exact mappings (from CISMeF team)
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.
