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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Bibliografski detalji
Izdano u:Neurol Genet
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2020
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Article
Online pristup: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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