Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

Mov Disord. 2016 Dec;31(12):1929-1931. doi: 10.1002/mds.26816. Epub 2016 Oct 27.
No abstract available

Keywords: ANO10; autosomal recessive cerebellar ataxia; founder mutation; genotype-phenotype correlation; whole-exome sequencing.

Publication types

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

MeSH terms

  • Adult
  • Anoctamins / genetics*
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology*
  • Electromyography
  • Family Health*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Serbia
  • Serine / genetics

Substances

  • ANO10 protein, human
  • Anoctamins
  • Serine