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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...
Autores principales: | Kurtz, Justin, Fernandes, Joseph Americo, Mansukhani, Mahesh, Copeland, William C., Naini, Ali B. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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Materias: | |
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 |
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