Academic Journal
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
| العنوان: | Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A. |
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| المؤلفون: | Muijnck, C. de, Schooneveld, M.J. van, Plomp, A.S., Rodenburg, R.J., Genderen, M.M. van, Boon, C.J.F. |
| المصدر: | American journal of ophthalmology case reports, 34, pp. 102070 |
| سنة النشر: | 2024 |
| المجموعة: | Radboud University: DSpace |
| مصطلحات موضوعية: | Human Genetics - Radboud University Medical Center, Paediatrics - Radboud University Medical Center |
| الوصف: | Contains fulltext : 306375.pdf (Publisher’s version ) (Open Access) ; PURPOSE: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. OBSERVATIONS: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in MT-ATP6, m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy. CONCLUSIONS AND IMPORTANCE: Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinical diagnosis. ; 01 juni 2024 |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| Relation: | https://repository.ubn.ru.nl//bitstream/handle/2066/306375/306375.pdf; https://hdl.handle.net/2066/306375 |
| DOI: | 10.1016/j.ajoc.2024.102070 |
| الاتاحة: | https://hdl.handle.net/2066/306375 https://repository.ubn.ru.nl//bitstream/handle/2066/306375/306375.pdf https://doi.org/10.1016/j.ajoc.2024.102070 |
| رقم الانضمام: | edsbas.7B9953AA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ajoc.2024.102070 |
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