Muscular Dystrophy, Congenital, Megaconial Type (MDCMC)

Muscular Dystrophy, Congenital, Megaconial Type, also known as megaconial type congenital muscular dystrophy, is related to hypotonia-cystinuria syndrome and muscular dystrophy, congenital, lmna-related, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Synthesis of PC. Affiliated tissues include skeletal muscle and heart, and related phenotypes are intellectual disability and muscle weakness