Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adult onset progressive external ophthalmoplegia (PEO...

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Bibliographic Details
Main Authors: Lidia Carreño-Gago, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Yolanda Cámara, Eduard Gallardo, Ramon Martí, Javier Torres-Torronteras, Elena García-Arumí
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Genetics
Subjects:
mtDNA
mitochondrial disease
PEO
multiple mtDNA deletions
RNASEH1
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00576/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00576/full

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