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Article

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy

12 Jul 2011

Abstract excerpt

Choline kinase is the first step enzyme for phosphatidylcholine (PC) de novo biosynthesis. Loss of choline kinase activity in muscle causes rostrocaudal muscular dystrophy (rmd) in mouse and congenital muscular dystrophy in human, characterized by distinct mitochondrial morphological abnormalities. We performed biochemical and pathological analyses on skeletal muscle mitochondria from rmd mice. No mitochondria...

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PMID: 21750112
DOI: 10.1093/hmg/ddr305

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