RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated with multiple mtDNA deletions. The onset is typically in adulthood, and affected subjects can also present with general muscle weakness. The underlying genetic defects comprise autos...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4572567/
https://ncbi.nlm.nih.gov/pubmed/26094573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.05.013
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