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Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered.

作者信息

Finsterer Josef, Zarrouk-Mahjoub Sinda

机构信息

Krankenanstalt Rudolfstiftung, Vienna, Austria.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

出版信息

Mol Genet Metab Rep. 2016 Dec 12;10:23. doi: 10.1016/j.ymgmr.2016.12.001. eCollection 2017 Mar.

Abstract
摘要

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本文引用的文献

1
Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).
Mol Genet Metab Rep. 2016 Nov 18;9:94-97. doi: 10.1016/j.ymgmr.2016.11.002. eCollection 2016 Dec.
2
Toxicity of Antiepileptic Drugs to Mitochondria.
Handb Exp Pharmacol. 2017;240:473-488. doi: 10.1007/164_2016_2.
3
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15.
4
Management of mitochondrial stroke-like-episodes.
Eur J Neurol. 2009 Nov;16(11):1178-84. doi: 10.1111/j.1468-1331.2009.02789.x. Epub 2009 Sep 23.

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