Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S,Lessard L,Rouzier C,Ait-El-Mkadem Saadi S,Ameli R,Thobois S,Abouaf L,Bouhour F,Kaplan J,Putoux A,Pegat A,Rozet J
Source :
EMBO Mol Med
2023 Jul 11
Pmid / DOI:
37431816
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).© 2023 The Authors. Published under the terms of the CC BY 4.0 license.