Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

Graphical 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).

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Bibliographic Details
Main Authors: Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Format: Article
Language:English
Published: Springer Nature 2023-07-01
Series:EMBO Molecular Medicine
Online Access:https://doi.org/10.15252/emmm.202216090
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