Muscular Dystrophy-Dystroglycanopathy , Type C, 12 (MDDGC12)

Muscular Dystrophy-Dystroglycanopathy , Type C, 12, also known as limb-girdle muscular dystrophy due to pomk deficiency, is related to congenital muscular dystrophy-dystroglycanopathy type a10 and nemaline myopathy 11. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 12 is POMK (Protein O-Mannose Kinase), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include skeletal muscle, and related phenotypes are neonatal hypotonia and elevated circulating creatine kinase concentration