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Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA(Leu (UUR)) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencin...

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Detalles Bibliográficos
Autores principales:	Ikeda, Takahiro, Osaka, Hitoshi, Shimbo, Hiroko, Tajika, Makiko, Yamazaki, Masayo, Ueda, Ayako, Murayama, Kei, Yamagata, Takanori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123423/ https://www.ncbi.nlm.nih.gov/pubmed/30210801 http://dx.doi.org/10.1038/s41439-018-0026-6

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