Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Abstract excerpt

PURPOSE OF REVIEW: Recessive mutations in CHKB cause a megaconial congenital muscular dystrophy whose most characteristic feature is mitochondrial enlargement at the periphery of muscle fibers and loss of mitochondria in the center of muscle fibers. This review will summarize clinicopathological features, genetic cause, and biochemical abnormalities of the disease, trying to decipher the mechanism of this complex...

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