What are the signs and symptoms of 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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This syndrome is caused by a mutation in the choline beta kinase gene. [18]

Clinical features present in most patients include hypotonia starting in early infancy, generalized muscle weakness, marked mental retardation with most not acquiring meaningful language, and microcephaly.

Other features seen in some patients include dilated cardiomyopathy and ichthyosiform skin changes.

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