Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

OBJECTIVE: To describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation. METHODS: Three unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were us...

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Detalles Bibliográficos
Autores principales: Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., Pitceathly, Robert D.S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984135/
https://www.ncbi.nlm.nih.gov/pubmed/32042910
http://dx.doi.org/10.1212/NXG.0000000000000381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984135/
https://www.ncbi.nlm.nih.gov/pubmed/32042910
http://dx.doi.org/10.1212/NXG.0000000000000381

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