Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

Mitochondrial cytopathies, among which the Leigh syndrome (LS), are caused by variants either in the mitochondrial or the nuclear genome, affecting the oxidative phosphorylation process. The aim of the present study consisted in defining the molecular diagnosis of a group of Tunisian patients with L...

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Detalles Bibliográficos
Autores principales: Hechmi, Meriem, Charif, Majida, Kraoua, Ichraf, Fassatoui, Meriem, Dallali, Hamza, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Drissi, Cyrine, Galaï, Saïd, Ouerhani, Slah, Procaccio, Vincent, Amati-Bonneau, Patrizia, Abdelhak, Sonia, Ben Youssef-Turki, Ilhem, Lenaers, Guy, Kefi, Rym
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2022
Materias:
Diagnostics & Biomarkers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508526/
https://www.ncbi.nlm.nih.gov/pubmed/36093993
http://dx.doi.org/10.1042/BSR20220194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508526/
https://www.ncbi.nlm.nih.gov/pubmed/36093993
http://dx.doi.org/10.1042/BSR20220194

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