Catalog

Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation – http://id.who.int/icd/entity/1006273551

Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies.