Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity

We describe four patients from three independent families with the m.1644G>A in the MT-TV gene, previously reported without demonstration of its deleterious impact. Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibers and respiratory defect in cybrids...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Mitochondrion 2014-03, Vol.15, p.34-39
Hauptverfasser:	Fraidakis, Matthew J, Jardel, Claude, Allouche, Stéphane, Nelson, Isabelle, Auré, Karine, Slama, Abdelhamid, Lemière, Isabelle, Thenint, Jean Philippe, Hamon, Jean Baptiste, Zagnoli, Fabien, Heron, Delphine, Sedel, Frédéric, Lombès, Anne
Format:	Artikel
Sprache:	eng
Schlagworte:	Endocrinology and metabolism Genes, Mitochondrial Genetics Human health and pathology Humans Life Sciences Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology Point Mutation Polarography Quantitative Trait Loci RNA, Transfer, Val - genetics Spectrum Analysis
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!