A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

Toshitaka Kawarai, Hiroki Yamazaki, Kei Yamakami, Ai Tsukamoto-Miyashiro, Mizuki Kodama, Roberto Rumore, Carlo Caltagirone, Ichizo Nishino, Antonio Orlacchio

Research output: Contribution to journalLetter

Original languageEnglish
Article number116584
JournalJournal of the Neurological Sciences
Volume409
DOIs
Publication statusE-pub ahead of print - 2019

Keywords

  • AIFM1
  • Ataxic sensory neuronopathy
  • Broad clinical and histopathological variations
  • Hearing impairment
  • Novel missense variation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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