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...

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Vydáno v:Neuromuscul Disord
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Pergamon Press 2020
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Article
On-line přístup: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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