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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...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pergamon Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477489/ https://www.ncbi.nlm.nih.gov/pubmed/32684384 http://dx.doi.org/10.1016/j.nmd.2020.06.008 |