Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

Author:

Manouvrier S,Rotig A,Hannebique G,Gheerbrandt J D,Royer-Legrain G,Munnich A,Parent M,Grunfeld J P,Largilliere C,Lombes A

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Diseases resulting from mitochondrial DNA point mutations;Wallace, D.C.; Lott, M.T.; Shoffner, J.M.;J Inher Metab Dis,1992

2. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies;Goto, Y.; Nonaka, I.; Horai, S.;Nature,1990

3. Mitochondrial encephalomyopathies;S, Di Mauro; CT, Moraes;Arch Neurol,1993

4. Mutation in mitochondrial tRNA leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness;den Ouweland JM, Van; H, Lemkes; W, Ruitenbeek;Nature Genet,1992

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

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