Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

Clin Genet. 2014 Mar;85(3):296-7. doi: 10.1111/cge.12140. Epub 2013 Apr 4.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anoctamins
  • Atrophy
  • Cerebellum / pathology
  • Exome*
  • Genes, Recessive*
  • Humans
  • Japan
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Positron-Emission Tomography
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*

Substances

  • ANO10 protein, human
  • Anoctamins
  • Membrane Proteins