Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

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).

SUBMITTER: Gerber S 

PROVIDER: S-EPMC10405053 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature