Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

M. Nguyen, I. Boesten, D. M. E. I. Hellebrekers, N. M. Mulder-den Hartog, I. F. M. de Coo, H. J. M. Smeets, M. Gerards*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)121-125
Number of pages5
JournalClinical Genetics
Volume91
Issue number1
Early online date8 Apr 2016
DOIs
Publication statusPublished - Jan 2017

Keywords

  • optic atrophy
  • SLC25A46
  • cerebellar atrophy
  • exome sequencing
  • mitochondrial dynamics
  • CEREBELLAR-ATAXIA
  • FAMILY

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