Clinical features of A3243G mitochondrial tRNA mutation

Brain and Development

Volumn 26, Issue 7, 2004, Pages 459-462

  Chae, Jong Hee ^a   Hwang, Hee ^a   Lim, Byung Chan ^a   Cheong, Hae Il ^a   Hwang, Yong Seung ^a   Kim, Ki Joong ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

A3243G; MELAS; Mitochondrial disorders

Indexed keywords

ADENINE NUCLEOTIDE; GUANINE NUCLEOTIDE; MITOCHONDRIAL RNA; TRANSFER RNA;

ARTICLE; CARDIOMYOPATHY; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE CLASSIFICATION; EVALUATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; HYPERLACTATEMIA; KEARNS SAYRE SYNDROME; KIDNEY FAILURE; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MYOPATHY; PERCEPTION DEAFNESS; PSYCHOMOTOR RETARDATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; INCIDENCE; KEARNS-SAYER SYNDROME; KOREA; LEIGH DISEASE; MALE; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL DISEASES; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA; RNA, TRANSFER;

EID: 4444242839     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.01.002     Document Type: Article

References (15)

1. DiMauro S., Bonilla E., Lombes A., Shanske S., Minetti C., Moraes C.T. Mitochondrial encephalomyopathies. Neurol Clin. 8:1990;483-506
2. Lombes A., Bonilla E., Dimauro S. Mitochondrial encephalomyopathies. Rev Neurol (Paris). 145:1989;671-689
3. Pavlakis S.G., Phillips P.C., DiMauro S., De Vivo D.C., Rowland L.P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 16:1984;481-488
4. Tulinius M.H., Holme E., Kristiansson B., Larsson N.G., Oldfors A. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr. 119:1991;242-250
5. King M.P., Koga Y., Davidson M., Schon E.A. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol. 12:1992;480-490
6. Cheong H.I., Chae J.H., Kim J.S., Park H.W., Ha I.S., Hwang Y.S., et al. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation. Pediatr Nephrol. 13:1999;477-480
7. Petty R.K., Harding A.E., Morgan-Hughes J.A. The clinical features of mitochondrial myopathy. Brain. 109:(Pt 5):1986;915-938
8. Jackson M.J., Schaefer J.A., Johnson M.A., Morris A.A., Turnbull D.M., Bindoff L.A. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain. 118:(Pt 2):1995;339-357
9. Cheong H.I., Chae J.H., Kim J.S., Park H.W., Ha I.S., Hwang Y.S., et al. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation. Pediatr Nephrol. 13:1999;477-480
10. Ciafaloni E., Ricci E., Shanske S., Moraes C.T., Silvestri G., Hirano M., et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 31:1992;391-398
11. Goto Y. MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations. Muscle Nerve. Suppl 3:1995;S107-S112
12. Hammans S.R., Sweeney M.G., Hanna M.G., Brockington M., Morgan-Hughes J.A., Harding A.E. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain. 118:(Pt 3):1995;721-734
13. Suzuki T., Koizumi J., Shiraishi H., Ishikawa N., Ofuku K., Sasaki M., et al. Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings. Neuroradiology. 32:1990;74-76
14. Rosen L., Phillips S., Enzmann D. Magnetic resonance imaging in MELAS syndrome. Neuroradiology. 32:1990;168-171
15. Sue C.M., Crimmins D.S., Soo Y.S., Pamphlett R., Presgrave C.M., Ko N., et al. Neuroradiologic features of six kindred with MELAS tRNA(Leu) A3243G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry. 65:(2):1998;223-240