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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Publicado no:Neurol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6984135/
https://ncbi.nlm.nih.gov/pubmed/32042910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000381
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