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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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | EN |
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Hindawi Limited
2021
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| Acceso en línea: | https://doaj.org/article/530aba970bae4c4f8bde706d79e970eb |
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