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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Vydáno v:Neurol Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
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On-line přístup: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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