Muscular Dystrophy-Dystroglycanopathy , Type C, 8 (MDDGC8)

Muscular Dystrophy-Dystroglycanopathy , Type C, 8, also known as muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related, is related to muscular dystrophy-dystroglycanopathy , type c, 2 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 8 is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)), and among its related pathways/superpathways are O-linked glycosylation of mucins and Striated muscle contraction pathway. Affiliated tissues include brain, and related phenotypes are elevated circulating creatine kinase concentration and calf muscle hypertrophy