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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2020
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items