Preferred Label : Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect;
ICD-11 definition : Congenital myopathy characterized clinically by early onset muscle weakness and mental
retardation. The hallmark of the disease is the presence in the muscle biopsy specimen
of greatly enlarged mitochondria displaced to the periphery of the fibers. It is caused
by mutations in the gene encoding choline kinase beta, the enzyme that catalyzes the
first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine.;
ICD-11 synonym : Congenital megaconial myopathy; Congenital muscular dystrophy with mitochondrial structural abnormalities;
Origin ID : 515608669;
Automatic exact mappings (from CISMeF team)
Congenital myopathy characterized clinically by early onset muscle weakness and mental
retardation. The hallmark of the disease is the presence in the muscle biopsy specimen
of greatly enlarged mitochondria displaced to the periphery of the fibers. It is caused
by mutations in the gene encoding choline kinase beta, the enzyme that catalyzes the
first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine.
