Muscular Dystrophy-Dystroglycanopathy , Type C, 2 (MDDGC2)

Muscular Dystrophy-Dystroglycanopathy , Type C, 2, also known as autosomal recessive limb-girdle muscular dystrophy type 2n, is related to muscular dystrophy-dystroglycanopathy , type c, 8 and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include skeletal muscle, and related phenotypes are elevated circulating creatine kinase concentration and limb-girdle muscular dystrophy