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...

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Bibliografiska uppgifter
I publikationen:Hum Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2015
Ämnen:
Original Investigation
Länkar: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
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