Defective phosphatidylcholine biosynthesis and muscular dystrophy

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Several individuals with congenital muscular dystrophy were recently described to have mutations in the gene encoding for choline kinase beta, inherited in an autosomal recessive manner. This is the first enzymatic step in a de novo biosynthetic pathway for phosphatidylcholine. Pathological features include intellectual disability, muscle wasting, and enlarged mitochondria on muscle biopsy. A mouse deficient in this enzyme was described previously, which also is affected with muscular dystrophy. (The American Journal of Human Genetics 88, 845–851, June 10, 2011)

Hilary Vernon, MD PhD

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