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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Publicado en:Hum Genome Var
Autores principales: Ikeda, Takahiro, Osaka, Hitoshi, Shimbo, Hiroko, Tajika, Makiko, Yamazaki, Masayo, Ueda, Ayako, Murayama, Kei, Yamagata, Takanori
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6123423/
https://ncbi.nlm.nih.gov/pubmed/30210801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0026-6
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