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Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
BMJ Case Rep. 2017 Feb 27;2017:bcr2016218133. doi: 10.1136/bcr-2016-218133.
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Clinical and genetic uniqueness in an individual with MELAS.
Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):440-4. doi: 10.1002/ajmg.b.30302.
3
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.
Ophthalmic Genet. 2016 Dec;37(4):419-423. doi: 10.3109/13816810.2015.1092045. Epub 2016 Feb 19.
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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69.
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A MELAS syndrome family harboring two mutations in mitochondrial genome.
Exp Mol Med. 2008 Jun 30;40(3):354-60. doi: 10.3858/emm.2008.40.3.354.
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The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
Mitochondrial DNA. 2015 Apr;26(2):208-12. doi: 10.3109/19401736.2014.905860. Epub 2014 Apr 8.

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2
Neuropsychiatric Features in Primary Mitochondrial Disease.
Neurol Clin. 2016 Feb;34(1):247-94. doi: 10.1016/j.ncl.2015.08.011.
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Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.
Chin Med J (Engl). 2015 Jul 5;128(13):1820-5. doi: 10.4103/0366-6999.159360.
5
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.
7
The psychiatric presentation of mitochondrial disorders in adults.
J Neuropsychiatry Clin Neurosci. 2012 Fall;24(4):394-409. doi: 10.1176/appi.neuropsych.11110345.
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Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.
J Child Neurol. 2013 Nov;28(11):1531-1534. doi: 10.1177/0883073812460580. Epub 2012 Oct 3.
9
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people.
Postgrad Med J. 2012 Jun;88(1040):326-34. doi: 10.1136/postgradmedj-2011-130326. Epub 2012 Feb 10.
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Diagnosis and treatment of mitochondrial myopathies.
Ann Med. 2013 Feb;45(1):4-16. doi: 10.3109/07853890.2011.605389. Epub 2011 Aug 25.

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