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126 related items for PubMed ID: 10220860
21. Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S. Am J Hum Genet; 1991 Feb; 48(2):203-11. PubMed ID: 1899320 [Abstract] [Full Text] [Related]
23. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM. Biochem Biophys Res Commun; 1998 Feb 04; 243(1):47-51. PubMed ID: 9473477 [Abstract] [Full Text] [Related]
30. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA. J Neurol Sci; 1992 Sep 04; 111(2):222-6. PubMed ID: 1431990 [Abstract] [Full Text] [Related]
32. A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy. Jeppesen TD, Duno M, Risom L, Wibrand F, Rafiq J, Krag T, Jakobsen J, Andersen H, Vissing J. Neuromuscul Disord; 2014 Feb 04; 24(2):162-6. PubMed ID: 24161205 [Abstract] [Full Text] [Related]
37. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation. Spinazzola A, Carrara F, Mora M, Zeviani M. Neuromuscul Disord; 2004 Dec 04; 14(12):815-7. PubMed ID: 15564038 [Abstract] [Full Text] [Related]