The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Author:

Fabrizi G M,Cardaioli E,Grieco G S,Cavallaro T,Malandrini A,Manneschi L,Dotti M T,Federico A,Guazzi G

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference21 articles.

1. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Lightand electron-microscopic studies of two cases;Fukuhara, N.; Tokiguchi, S.; Shirakawa, K.; Tsubaki, T.;and review of literature. J Neurol Sci,1980

2. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes;Pavlakis, S.G.; Phillips, P.C.; DiMauro, S.; DeVivo, D.C.; Rowland, L.P.;Ann Neurol,1984

3. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation;Shoffner, J.M.; Lott, M.T.; Lezza, A.M.; Seibel, P.; Ballinger, S.W.; Wallace, D.C.;Cell

4. A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF);Silvestri, G.; Moraes, C.T.; Shanske, S.; Oh, S.J.; DiMauro, S.;Am J Husn Genet,1992

5. Clinical features of MELAS and mitochondrial DNA mutations;Goto, Y.;Muscle Nerve,1995

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