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- Title
Before Leigh syndrome can be attributed to m.1608G≥A in MT-TV, its pathogenicity must be confirmed.
- Authors
Finsterer, J
- Abstract
This article discusses a case study of a 23-year-old male with adult-onset Leigh syndrome, which presented as Parkinson's syndrome and dystonia. The study focuses on the mtDNA variant m.1608G>A in MT-TV as a potential cause of the syndrome. However, the article highlights several limitations, including the lack of confirmation of the variant's pathogenicity through biochemical, genetic, or family studies, as well as the absence of in silico prediction. Additionally, the heteroplasmy rate of the variant and genetic testing of first-degree family members were not reported. The study concludes that further investigation is needed to clarify these limitations and provide a comprehensive understanding of the case.
- Subjects
SYNDROMES; PARKINSON'S disease; CANKER (Plant disease)
- Publication
QJM: An International Journal of Medicine, 2024, Vol 117, Issue 2, p159
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad270