Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

BURNS R., MAJCZENKO K., XU J., PENG W., Yapici Z., DOWLING J. J., ...More

NEUROLOGY, vol.83, no.23, pp.2175-2182, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 23
  • Publication Date: 2014
  • Doi Number: 10.1212/wnl.0000000000001053
  • Journal Name: NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2175-2182
  • Istanbul University Affiliated: Yes

Abstract

Objective: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.