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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495259/
https://www.ncbi.nlm.nih.gov/pubmed/26008905
http://dx.doi.org/10.1007/s00439-015-1568-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495259/
https://www.ncbi.nlm.nih.gov/pubmed/26008905
http://dx.doi.org/10.1007/s00439-015-1568-z

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