| 1 | MT-TN, MTMPEI |
| Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. | |
| Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM. | |
| Biochem Biophys Res Commun 412(4):518-21. Epub 2011 Jun 29. 2011 | |
| 2 | MERRF, MT-TN |
| Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis is the tRNA Leu(UUR) gene an etiologic hot spot? | |
| Moraes CT, et al. | |
| J Clin Invest 92 : 2906-2915. 1993 | |