Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNA(Trp) gene

Annals of Neurology

Volumn 42, Issue 2, 1997, Pages 256-260

  Santorelli, F M ^a   Tanji, K ^a   Sano, M ^a,b   Shanske, S ^a   El Shahawi, M ^a   Kranz Eble, P ^a   DiMauro, S ^a   De Vivo, D C ^a,c  

^a Columbia University ^*  (United States)

^b and Epidemiology   (United States)

^c New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ARTICLE; BASE MISPAIRING; BRAIN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; HUMAN; HUMAN TISSUE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SEQUENCE;

ADULT; ANIMALS; AUTOPSY; BASE SEQUENCE; CHILD; CYTOCHROME-C OXIDASE DEFICIENCY; DNA TRANSPOSABLE ELEMENTS; DNA, MITOCHONDRIAL; FEMALE; GENOMIC IMPRINTING; HAIR; HUMANS; INFANT; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MYOCARDIUM; ORGAN SPECIFICITY; PEDIGREE; RNA, TRANSFER, TRP; SEQUENCE ALIGNMENT; SKIN; SYNDROME; THYMIDINE;

EID: 0030746382     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420220     Document Type: Article

References (15)

1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430
2. DiMauro S, Hirano M, Bonilla E, De Vivo DC. The mitochondrial disorders. In: Berg O, ed. Principles of child neurology. New York: McGraw-Hill, 1996:1201-1232
3. De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1-22
4. Bonilla E, Sciacco M, Tanji K, et al. New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathol 1992;2:113-119
5. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506
6. Leu(UUR) mutation in MELAS: genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949
7. Yoneda M, Miyatake T, Attardi G. Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol Cell Biol 1994;14:2699-2712
8. Dunbar DR, Moonie PA, Jacobs HT, Holt IJ. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 1995;92:6562-6566
9. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996;40:5-7
10. Nelson I, Hanna MG, Alsanjari N, et al. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995;37:400-403
11. Ser(UCN) gene. Hum Mol Genet 1995;4:1421-1427
12. Leu(UUR) gene. Neurology 1995;45:286-292
13. Suzuki T, Koizumi J, Shiraishi H, et al. Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings. Neuroradiology 1990;32:74-76
14. Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66
15. McMahon FJ, Stine OC, Meyers DA, et al. Patterns of maternal transmission in bipolar affective disorder. Am J Hum Genet 1995;56:1277-1286