A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Succinate dehydrogenase (SDH) is a crucial metabolic enzyme complex that is involved in ATP production, playing roles in both the tricarboxylic cycle and the mitochondrial respiratory chain (complex II). Isolated complex II deficiency is one of the rarest oxidative phosphorylation disorders with mut...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Genet
Hauptverfasser: Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2015
Schlagworte:
Original Investigation
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4495259/
https://ncbi.nlm.nih.gov/pubmed/26008905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1568-z
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge