Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11.

Abstract

Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).

Publication types

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

MeSH terms

  • Cell Cycle Proteins* / genetics
  • Cytoskeletal Proteins / genetics
  • Humans
  • Mutation
  • Optic Atrophies, Hereditary*

Substances

  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • MSTO1 protein, human