Clinical diagnosis in the era of DNA testing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10633-019-09689-4.pdf
Reference4 articles.
1. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16(4):481–488
2. Goto Y, Nonak 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
3. Finsterer J, Bastovansky A (2015) Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder. Rev Med Chil 143(9):1210–1214
4. 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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