Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Q103672): Difference between revisions

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Latest revision as of 09:25, 17 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_515608669
English	Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect	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.