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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Detalles Bibliográficos
Autores principales: Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588129/
https://www.ncbi.nlm.nih.gov/pubmed/31258551
http://dx.doi.org/10.3389/fgene.2019.00576

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588129/
https://www.ncbi.nlm.nih.gov/pubmed/31258551
http://dx.doi.org/10.3389/fgene.2019.00576

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