Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia

Pediatr Int. 2017 Sep;59(9):1018-1020. doi: 10.1111/ped.13335. Epub 2017 Jul 14.
No abstract available

Keywords: SGCE; dystonia; imprinting; myoclonus; nonsense-mediated mRNA decay.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Codon, Nonsense*
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Japan
  • Male
  • Sarcoglycans / genetics*

Substances

  • Codon, Nonsense
  • Genetic Markers
  • SGCE protein, human
  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia