Condition: Muscular Dystrophy, Congenital, Megaconial Type


rs1555894289 in CHKB-CPT1B;CPT1B;CHKB gene and Muscular Dystrophy, Congenital, Megaconial Type PMID 21665002 2011 A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.