JOURNAL ARTICLE

Before Leigh syndrome can be attributed to m.1608G≥A in MT-TV, its pathogenicity must be confirmed.

  • Published In: QJM: An International Journal of Medicine, 2024, v. 117, n. 2. P. 159 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Finsterer, J 3 of 3

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. [Extracted from the article]

Additional Information

  • Source:QJM: An International Journal of Medicine. 2024/02, Vol. 117, Issue 2, p159
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2024
  • ISSN:1460-2725
  • DOI:10.1093/qjmed/hcad270
  • Accession Number:175851767
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