Catalog

Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation – http://id.who.int/icd/entity/1187309098

Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterised by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.