A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

Neurology

Volumn 46, Issue 5, 1996, Pages 1334-1336

  Verma, Ashok ^b   Moraes, Carlos T ^b   Shebert, Robert T ^b   Bradley, Walter G ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ENCEPHALOMYOPATHY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE DELETION; HAIR COLOR; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MERRF SYNDROME; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; PREMATURE AGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0029953124     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.46.5.1334     Document Type: Article

References (21)

1. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299.
2. DiMauro S. Symposium on mitochondrial encephalopathies. Brain Pathol 1992;2:111-162.
3. Eymard B, Hauw J. Mitochondrial encephalopathy. Curr Opin Neurol Neurosurg 1992;5:909-916.
4. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 1990;348:651-653.
5. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-822.
6. Lys mutation. Cell 1990;61:931-937.
7. Andersen S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981;290:457-465.
8. Attardi G. Human mitochondrial genetic system. In: Mitochondrial DNA in human pathology. DiMauro S, Wallace DC, eds. New York: Raven Press, 1993:9-25.
9. Cortopassi G, Arnheim N. Accumulation of mitochondrial DNA mutation in normal aging brain and muscle. In: Mitochondrial DNA in human pathology. DiMauro S, Wallace DC, eds. New York: Raven Press, 1993:125-136.
10. Ames BN, Shigenaga MK, Hagen TM. Oxidants, antioxidants and the degenerative diseases of aging. Proc Natl Acad Sci USA 1993;90:7915-7922.
11. Ciafaloni E, Ricci E, Shanke S, et al. MELAS: clinical features, biochemistry and molecular genetics. Ann Neurol 1992; 31:391-398.
12. Li H, Cui H, Arnheim N. Analysis of DNA sequence variation in single cells. Methods: A companion to Methods in Enzymology 1991;2:49-59.
13. Leu(UUR) mutations in MELAs: genetic, biochemical and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949.
14. Crimmins D, Morris JGL, Waler GL, et al. Mitochondrial encephalomyopathy: variable clinical expression in a single kindred. J Neurol Neurosurg Psychiatry 1993;56:900-905.
15. de Vries D, de Wijs I, Ruitenbeek W, et al. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci 1994;124:77-82.
16. Moraes CT, Ciacci F, Silvestri G, et al. Atypical presentations associated with the MELAS mutations at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993;3:43-50.
17. Leu(UUR)) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993;43:1589-1590.
18. Zupanc ML, Moraes CT, Shanske S, et al. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 1991;29:680-683.
19. Fang W, Huang C, Lee C, et al. Ophthalmologic manifestations in MELAS syndrome. Arch Neurol 1993;50:977-980.
20. Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol 1992;12:480-490.
21. Hess JF, Parisi MA, Bennett JL, Clayton DA. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 1991;351:236-239.