What causes congenital muscular dystrophy (CMD) with mitochondrial structural abnormalities?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Mutation in choline kinase beta on chromosome 22 cause this autosomal recessive disorder. [18]

Choline kinase beta catalyzes phosphorylation of choline by ATP committing choline to the pathway for biosynthesis of phosphatidylcholine, which accounts for about 50% of phospholipids in biological membranes.

Muscle tissue from 3 individuals had undetectable levels of choline beta kinase and decreased levels of phosphatidylcholine.

Mitochondria were displaced to the periphery of muscle fibers and were abnormally large.


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