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MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.
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A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.
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Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.
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Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.
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Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions.
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MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.
eNeurologicalSci. 2016 Apr 25;4:15-18. doi: 10.1016/j.ensci.2016.04.006. eCollection 2016 Sep.
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The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
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MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
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本文引用的文献

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Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15.
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Detection of mutations in mtDNA.
Methods Cell Biol. 2007;80:437-63. doi: 10.1016/S0091-679X(06)80022-1.
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Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
Proc Natl Acad Sci U S A. 2005 May 17;102(20):7127-32. doi: 10.1073/pnas.0500563102. Epub 2005 May 3.
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MITOMAP: a human mitochondrial genome database--2004 update.
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D611-3. doi: 10.1093/nar/gki079.
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Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.
FEBS Lett. 2004 Dec 3;578(1-2):135-9. doi: 10.1016/j.febslet.2004.11.004.
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A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.
Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3.
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Human mitochondrial DNA diseases.
Adv Drug Deliv Rev. 2001 Jul 2;49(1-2):27-43. doi: 10.1016/s0169-409x(01)00124-7.
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Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.
Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7.

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