Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by autosomal recessive mutations in FOXRED1. Here, we re...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6349952/
https://ncbi.nlm.nih.gov/pubmed/30723688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.12.006
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