Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Q103672)

Congenital myopathy characterised 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 fibres. 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.