MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Author:

Huang C C,Chen R S,Chen C M,Wang H S,Lee C C,Pang C Y,Hsu H S,Lee H C,Wei Y H

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference14 articles.

1. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALY3 mutation;Shoffner, J.M.; Lott, M.T.; Lezza, A.M.S.; Seibel, P.; Ballinger, S.W.; Wallace, D.C.;Cell,1990

2. Quantitation of mitochondrial DNA carrying tRNALP mutation in MERRF patients;Tanno, Y.; Yoneda, M.; Nonaka, I.; Tanaka, K.; Miyatake, T.; Tsuji, S.;Biochem Biophys Res Commun,1991

3. Clinical spectrum of mitochondrial DNA mutation at base pair 8344;Berkovic, S.F.; Shoubridge, E.A.; Andermann, F.; Andermann, E.; Carpenter, S.; Karpati, G.;Lancet,1991

4. A mutation in the tRNA'-UR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies;Goto, Y.; Nonaka, I.; Horai, S.;Nature,1990

5. MELAS: clinical features, biochemistry and molecular genetics;Ciafaloni, E.; Ricci, E.; Shanske, S.;Ann Neurol,1992

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