MITOMAP References for RNA Mutation A8344G

• Berkovic, S. F., Shoubridge, E. A., Andermann, F., Andermann, E., Carpenter, S., Karpati, G. (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344 Lancet . 338 (8764): 457 .


• Silvestri, G., Ciafaloni, E., Santorelli, F.M., Shanske, S., Servidei, S., Graf, W.D., Sumi, M., DiMauro, S. (1993) Clinical features associated with the A-G transition at nucleotide 8344 of mtDNA ('MERRF mutation') Neurology . 43 (6): 1200-1206 .


• Santorelli, F.M., Tanji, K., Shanske, S., Krishna, S., Schmidt, R.E., Greenwood, R.S., DiMauro, S., De Vivo, D.C. (1998) The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past Annals of Neurology . 44 (6): 962-964 .


• Molnar, M. J., Perenyi, J., Siska, E., Nemeth, G., Nagy, Z. (2009) The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders Journal of Neurology . 256 (2): 264-265 .


• Biancheri, R., Rossi, D., Cassandrini, D., Rossi, A., Bruno, C., Santorelli, F. M. (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation AJNR. American Journal of Neuroradiology . 31 (9): E78-79 .


• Vallance, H. D., Jeven, G., Wallace, D. C., Brown, M. D. (2004) A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation Pediatric Cardiology . 25 (5): 538-540 .


• Perez, F., Anne, O., Debruxelles, S., Menegon, P., Lambrecq, V., Lacombe, D., Martin-Negrier, M. L., Brochet, B., Goizet, C. (2009) Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clinical Neurology and Neurosurgery . 111 (1): 83-86 .


• Tsao, C. Y., Herman, G., Boue, D. R., Prior, T. W., Lo, W. D., Atkin, J. F., Rusin, J. (2003) Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review Journal of Child Neurology . 18 (1): 62-64 .


• Howell, N., Kubacka, I., Smith, R., Frerman, F., Parks, J. K., Parker, W. D., Jr. (1996) Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease Neurology . 46 (1): 219-222 .