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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNA(Tyr), are a rare cause of mitochondrial disease. Here we describe a novel m.5860de...

詳細記述

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書誌詳細
出版年:Neuromuscul Disord
主要な著者: Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
フォーマット: Artigo
言語:Inglês
出版事項: Pergamon Press 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477489/
https://ncbi.nlm.nih.gov/pubmed/32684384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2020.06.008
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