Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Coenzyme Q(10) (CoQ(10)) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ(10) may lead to severe metabolic disorders with onset in early childhood....

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755375/
https://ncbi.nlm.nih.gov/pubmed/26081641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.133
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