The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review

Background. Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative phosphorylation system. Death usually appea...

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Bibliographic Details

Published in:	The Turkish Journal of Pediatrics
Main Authors:	Dejan Aleksic, Marina Gazdic Jankovic, Stefan Todorovic, Marija Kovacevic, Milan Borkovic
Format:	Article
Language:	English
Published:	Hacettepe University Institute of Child Health 2023-12-01
Subjects:	elongation factor G1 hepatoencephalopathy lactic acidosis mitochondrial disorder mutation
Online Access:	https://turkjpediatr.org/article/view/113