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m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome

Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the MT-ND1 (NADH:ubiquinone oxidoreductase core subunit 1) gene that result in Complex I dysfunction are a kn...

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Detalles Bibliográficos
Autores principales:	Jean, Jeffrey, Christodoulou, Eirini, Gai, Xiaowu, Tamrazi, Benita, Vera, Moin, Mitchell, Wendy G., Schmidt, Ryan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958915/ https://www.ncbi.nlm.nih.gov/pubmed/35217561 http://dx.doi.org/10.1101/mcs.a006136

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