A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing

A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing

Background: Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene. The rare incidence of the disease and the high clinical heterogeneity pose challenges in making a precise diagnosis. Investigations into the rare COXPD23 pat...

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Bibliographic Details
Main Authors: Yanjun Wang, Juan He, Fangling Dong, Weihua Shou, Xingxing Feng, Ya Yang, Cuifen Li, Jingjing Wang, Bin Li, Shufang Xiao
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
COXPD23
Novel GTPBP3 mutation
Whole exome sequencing
Minigene
Mitochondrial diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024032304

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