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Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

OBJECTIVE: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning. METHODS: We included 85 matrilineal relatives from 35 fa...

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書誌詳細
主要な著者: Kaufmann, P., Engelstad, K., Wei, Y., Kulikova, R., Oskoui, M., Sproule, D.M., Battista, V., Koenigsberger, D.Y., Pascual, J.M., Shanske, S., Sano, M., Mao, X., Hirano, M., Shungu, D.C., DiMauro, S., De Vivo, D.C.
フォーマット: Artigo
言語:Inglês
出版事項: Lippincott Williams & Wilkins 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3235358/
https://ncbi.nlm.nih.gov/pubmed/22094475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31823a0c7f
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