Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome

Muscle and Nerve

Volumn 19, Issue 4, 1996, Pages 519-521

  Chen, Rou Shayn ^a   Huang, Chin Chang ^a,c   Chu, Nai Shin ^a   Chu, Chun Che ^a   Shih, Kwang Dar ^b   Pang, Cheng Yoong ^b   Wei, Yau Huei ^b  

^a CHANG GUNG UNIVERSITY   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

MERRF; mitotic segregation; mtDNA; neurilemoma; tissue distribution

Indexed keywords

MITOCHONDRIAL DNA;

AGED; ARTICLE; CASE REPORT; DNA DETERMINATION; ECTODERM; FEMALE; HUMAN; MERRF SYNDROME; MESODERM; MUTATION; NEURILEMOMA; PRIORITY JOURNAL; TISSUE DISTRIBUTION;

AGED; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MERRF SYNDROME; MUTATION; NEURILEMMOMA; PELVIC NEOPLASMS; RETROPERITONEAL NEOPLASMS; TISSUE DISTRIBUTION;

EID: 13344278031     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199604)19:4<519::AID-MUS12>3.0.CO;2-K     Document Type: Article

References (22)

1. Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G: Mitochondrial dysfunction in multiple svmmetrical lipomatosis. Ann Neurol 1991;29:566-569.
2. Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome, Neurology 1991;41:1663-1665.
3. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S: MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-398.
4. Iw gene. Muscle Nerve 1994;17:52-57.
5. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T: Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Light-and electronmicroscopic studies of two cases and review of literature. J Neurol Sci 1980;47:117-133.
6. Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE: Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991;337:1311-1313.
7. IN(344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1993;52:551-556.
8. Leu[UUR] gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry 1994;57:586-589.
9. Hunter VP, Burke TW, Crooks LA: Retroperitoneal nerve sheath tumors: an unusual cause of pelvic mass. Obstet Gynecol 1988;71:1050-1052.
10. Khatib RA, Khalil AM, Saba MI, Aswad NK, Mroueh AM: A pelvic retroperitoneal schwannoma presenting as an adnexal mass. Gynecol Oncol 1994;53:242-244.
11. Lw A→ G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome, Am J Hum Genet 1992;51:1201-1212.
12. Lombés A, Diaz C, Romero NB, Ziegler F, Fardeau M: Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. Neuromusc Disord 1992;2:323-330.
13. Lombés A, Mendell JR, Nakase H, Barohn JR, Bonilla E, Zeviani M, Yates AJ, Omerza J, Gales TL, Nakahara K, Rizzuto R, Engel WK, DiMauro S: Myoclonic epilepsy and raggedred fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 1989;26:20-33.
14. Leu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993;43:1586-1590.
15. Leu(UUR)]. FEBS Lett 1991;286:67-70.
16. Seibel P, Degoul F, Bonne G, Romero N, Francois D, Jouas MP, Ziegler F, Eymard B, Fardeau M, Marsac C, Kadenbach B: Genetic, biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 1991;105:217-224.
17. Shanske S, Moraes CT, Lombẽs A, Miranda AF, Bonilla E, Lewis P, Whelan MA, Ellsworth CA, DiMauro S: Widespread tissue distribution of mitochondrial DNA deletions in KearnsSayre syndrome. Neurology 1990;40:24-28.
18. Shih KD, Yen TC, Pang CY, Wei YH: Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease. Biochem Biochem Res Commun 1991; 174:1109-1116.
19. Lw mutation. Cell 1990;61:931-937.
20. Lw mutation in mitochondrial NDA in MERRF patients. Neurology 1993;43:1198-2000.
21. Wallace DC, Zheng X, Lott MT, Shoffner JM, HodgeJA, Kelley FI, Epstein CM, Hopkins LC: Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988;55:601-610.
22. [8344] mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1991;48:203-211.