Article
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.
Neuromuscular disorders : NMD - 1 Aug 2020
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
Abstract excerpt
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 tRNATyr, are a rare cause of mitochondrial disease. Here we describe a novel m.5860delTA anticodon variant in the MT-TY gene in a patient who initially presented with features akin to a childhood onset...
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