A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus
Publicado no Neuromuscul Disord (2015)

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Publicado no Eur J Hum Genet (2015)