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. 1997 Jun;60(6):1539–1542. doi: 10.1016/S0002-9297(07)64248-7

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

S Hofmann, R Bezold, M Jaksch, P Kaufhold, B Obermaier-Kusser, K D Gerbitz
PMCID: PMC1716111  PMID: 9199577

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brown M. D., Torroni A., Reckord C. L., Wallace D. C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat. 1995;6(4):311–325. doi: 10.1002/humu.1380060405. [DOI] [PubMed] [Google Scholar]
  2. Brown M. D., Voljavec A. S., Lott M. T., Torroni A., Yang C. C., Wallace D. C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 Jan;130(1):163–173. doi: 10.1093/genetics/130.1.163. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Collier D. A., Barrett T. G., Curtis D., Macleod A., Arranz M. J., Maassen J. A., Bundey S. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet. 1996 Oct;59(4):855–863. [PMC free article] [PubMed] [Google Scholar]
  4. Hofmann S., Bezold R., Jaksch M., Obermaier-Kusser B., Mertens S., Kaufhold P., Rabl W., Hecker W., Gerbitz K. D. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics. 1997 Jan 1;39(1):8–18. doi: 10.1006/geno.1996.4474. [DOI] [PubMed] [Google Scholar]
  5. Howell N., Kubacka I., Halvorson S., Howell B., McCullough D. A., Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics. 1995 May;140(1):285–302. doi: 10.1093/genetics/140.1.285. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Howell N., Kubacka I., Halvorson S., Mackey D. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene. Genetics. 1993 Jan;133(1):133–136. doi: 10.1093/genetics/133.1.133. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Johns D. R., Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324–1330. doi: 10.1016/0006-291x(91)91567-v. [DOI] [PubMed] [Google Scholar]
  8. Mackey D. A., Oostra R. J., Rosenberg T., Nikoskelainen E., Bronte-Stewart J., Poulton J., Harding A. E., Govan G., Bolhuis P. A., Norby S. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996 Aug;59(2):481–485. [PMC free article] [PubMed] [Google Scholar]
  9. Obermaier-Kusser B., Lorenz B., Schubring S., Paprotta A., Zerres K., Meitinger T., Meire F., Cochaux P., Blankenagel A., Kommerell G. Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet. 1994 Nov;55(5):1063–1066. [PMC free article] [PubMed] [Google Scholar]
  10. Polymeropoulos M. H., Swift R. G., Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet. 1994 Sep;8(1):95–97. doi: 10.1038/ng0994-95. [DOI] [PubMed] [Google Scholar]
  11. Rödel G., Laubhan R., Scheuerle A., Skowronek P., Haferkamp O. Association of the LHON 13,708 and 15,257 mitochondrial DNA mutations with neurodegenerative diseases distinct from LHON. Eur J Med Res. 1996 Jul 25;1(10):491–494. [PubMed] [Google Scholar]
  12. Torroni A., Carelli V., Petrozzi M., Terracina M., Barboni P., Malpassi P., Wallace D. C., Scozzari R. Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet. 1996 Jul;59(1):248–252. [PMC free article] [PubMed] [Google Scholar]
  13. Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M. L., Wallace D. C. Classification of European mtDNAs from an analysis of three European populations. Genetics. 1996 Dec;144(4):1835–1850. doi: 10.1093/genetics/144.4.1835. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Torroni A., Lott M. T., Cabell M. F., Chen Y. S., Lavergne L., Wallace D. C. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 1994 Oct;55(4):760–776. [PMC free article] [PubMed] [Google Scholar]

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