Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/article/10.1007/s10633-019-09673-y/fulltext.html
Reference22 articles.
1. Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331(6158):717–719
2. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ II, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242(4884):1427–1430
3. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348(6302):651–653
4. Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R (2013) The UK MRC mitochondrial disease patient cohort study: clinical phenotypes associated with the m.3243A > G mutation–implications for diagnosis and management. J Neurol Neurosurg Psychiatry 84(8):936–938. https://doi.org/10.1136/jnnp-2012-303528
5. Goto Y, Nonaka I, Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1097(3):238–240
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1. Visual disturbances in a 12-year-old male patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome;Taiwan Journal of Ophthalmology;2024-04-24
2. One Health Approach for Eye Care;One Health;2023-06-16
3. Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype;Documenta Ophthalmologica;2019-03-28
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