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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Detaylı Bibliyografya
Yayımlandı:Neurol Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer 2020
Konular:
Article
Online Erişim: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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