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...

Full description

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

Similar Items

Similar Items