A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with ca...

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Bibliographic Details
Main Authors: Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919301600

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http://www.sciencedirect.com/science/article/pii/S2214426919301600

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