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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Fragaki, Konstantina, Chaussenot, Annabelle, Serre, Valerie, Acquaviva, Cecile, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6879992/
https://ncbi.nlm.nih.gov/pubmed/31788426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100543
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