Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India

Autor: Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani

Publikováno v: Molecular Vision

Purpose Genetic testing for primary mutations m.3460G>A, m.11778G>A, and m.14484T>C in ND1, ND4, and ND6 genes of mitochondrial DNA is the recommended assay for Leber hereditary optic neuropathy (LHON; OMIM 535000). This report discusses the outcome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e9abd57ccfe1908cec1e62277af467f8
http://europepmc.org/articles/PMC8711579

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Leber hereditary optic neuropathy—new insights and old challenges.

Autor: Sundaramurthy, Srilekha, SelvaKumar, Ambika, Ching, Jared, Dharani, Vidhya, Sarangapani, Sripriya, Yu-Wai-Man, Patrick

Publikováno v: Graefe's Archive of Clinical & Experimental Ophthalmology; Sep2021, Vol. 259 Issue 9, p2461-2472, 12p

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Leber hereditary optic neuropathy-new insights and old challenges.

Autor: Sundaramurthy S; 1SN Oil and Natural Gas Corporation (ONGC) Department of Genetics & Molecular Biology, Vision Research Foundation, Chennai, India. srilekhasundar@gmail.com., SelvaKumar A; Department of Neuro-Ophthalmology, Medical Research Foundation, Chennai, India., Ching J; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John Van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Dharani V; Department of Neuro-Ophthalmology, Medical Research Foundation, Chennai, India., Sarangapani S; 1SN Oil and Natural Gas Corporation (ONGC) Department of Genetics & Molecular Biology, Vision Research Foundation, Chennai, India., Yu-Wai-Man P; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John Van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; NIHR Biomedical Research Centre, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.

Publikováno v: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2021 Sep; Vol. 259 (9), pp. 2461-2472. Date of Electronic Publication: 2020 Nov 13.