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Clinical and genetic characteristics of childhood-onset myotonic dystrophy.

Mathew StokesNatasha VarugheseSusan IannacconeDiana Castro
Published in: Muscle & nerve (2019)
Myotonic dystrophy type 1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is required.
Keyphrases
  • early onset
  • muscular dystrophy
  • young adults
  • sleep quality
  • genome wide
  • case report
  • copy number
  • clinical practice
  • childhood cancer
  • dna methylation