Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

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).[Image: see text]

Detalles Bibliográficos
Autores principales: Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405053/
https://www.ncbi.nlm.nih.gov/pubmed/37431816
http://dx.doi.org/10.15252/emmm.202216090

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