Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32-90% of cases harbor pathogenic variants in this gene. The aim of...

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Autores principales: Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/79851959e93d45caa1af4f3bf738b073
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