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 rep...
Main Authors: | Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-03-01
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Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426918300909 |
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