Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, w...

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Detalles Bibliográficos
Autores principales: Manini, Arianna, Caporali, Leonardo, Meneri, Megi, Zanotti, Simona, Piga, Daniela, Arena, Ignazio Giuseppe, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Carelli, Valerio, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194440/
https://www.ncbi.nlm.nih.gov/pubmed/35711919
http://dx.doi.org/10.3389/fgene.2022.906667

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