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Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?

作者信息

Finsterer Josef

机构信息

Krankenanstalt Rudolfstiftung, Vienna, Asutria.

出版信息

Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.

Abstract
摘要

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Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.
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MERRF Classification: Implications for Diagnosis and Clinical Trials.
Pediatr Neurol. 2018 Mar;80:8-23. doi: 10.1016/j.pediatrneurol.2017.12.005. Epub 2017 Dec 13.
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Toxicity of Antiepileptic Drugs to Mitochondria.
Handb Exp Pharmacol. 2017;240:473-488. doi: 10.1007/164_2016_2.
4
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
J Neurol. 2015 Mar;262(3):701-10. doi: 10.1007/s00415-014-7632-0. Epub 2015 Jan 6.
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Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.
Seizure. 2013 Jul;22(6):483-6. doi: 10.1016/j.seizure.2013.03.003. Epub 2013 Apr 16.

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