Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) encoded genes, and the gene that encodes for mtDNA p...

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Detalles Bibliográficos
Autores principales: Kurtz, Justin, Fernandes, Joseph Americo, Mansukhani, Mahesh, Copeland, William C., Naini, Ali B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8589515/
https://www.ncbi.nlm.nih.gov/pubmed/34777884
http://dx.doi.org/10.1155/2021/9969071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8589515/
https://www.ncbi.nlm.nih.gov/pubmed/34777884
http://dx.doi.org/10.1155/2021/9969071

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