FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13; OMIM #615471), which commonly...

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Bibliographic Details
Main Authors: Rami A. Ballout, Chadi Al Alam, Penelope E. Bonnen, Martina Huemer, Ayman W. El-Hattab, Rolla Shbarou
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
mitochondria
mitochondrial diseases
mitochondrial fusion
mitochondrial DNA (mtDNA)
FBXL4
pediatric genetics
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00039/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00039/full

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