Low-penetrance branches in matrilineal pedigrees with leber hereditary optic neuropathy [2]

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 1220-1224

  Howell, N ^a   Mackey, D A ^a  

^a University of Texas Medical Branch School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; UBIQUINONE;

GENE AMPLIFICATION; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MAJOR CLINICAL STUDY; PATHOGENESIS; PEDIGREE; PENETRANCE; PRACTICE GUIDELINE; PRIORITY JOURNAL;

EID: 0032231349     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302049     Document Type: Letter

References (25)

1. S Anderson AT Bankier BG Barrell MHL de Bruijn AR Coulson J Drouin IC Eperon Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
2. MD Brown F Sun DC Wallace Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage Am J Hum Genet 60 1997 381 387
3. A El Meziane SK Lehtinen N Hance LGJ Nijtmans D Dunbar IJ Holt HT Jacobs A tRNA suppressor mutation in human mitochondria Nat Genet 18 1998 350 353
4. SR Hammans MG Sweeney MG Hanna M Brockington JA Morgan-Hughes AE Harding The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study Brain 118 1995 721 734
5. N Howell Primary LHON mutations: trying to separate “fruyt” from “chaf” Clin Neurosci 2 1994 130 137
6. N Howell Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? J Bioenerg Biomembr 29 1997 a 165 173
7. N Howell Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve Vision Res 37 1997 b 3495 3507
8. N Howell C Bogolin R Jamieson DR Marenda DA Mackey mtDNA mutations that cause optic neuropathy: how do we know? Am J Hum Genet 62 1998 196 202
9. N Howell I Kubacka S Halvorson B Howell DA McCullough D Mackey Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics 140 1995 285 302
10. N Howell I Kubacka S Halvorson D Mackey Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene Genetics 133 1993 133 136
11. N Howell I Kubacka M Xu DA McCullough Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation Am J Hum Genet 48 1991 935 942
12. N Howell M Xu S Halvorson I Bodis-Wollner J Sherman A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation Am J Hum Genet 55 1994 203 206
13. DR Johns Genotype-specific phenotypes in Leber's hereditary optic neuropathy Clin Neurosci 2 1994 146 150
14. DR Johns J Berman Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy Biochem Biophys Res Commun 174 1991 1324 1330
15. V Juvonen E Nikoskelainen T Lamminen M Penttinen P Aula M-L Savontaus Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy Hum Mutat 9 1997 412 417
16. T Leber Über hereditäre und congenital-angelegte Sehnervenleiden Graefes Arch Clin Exp Ophthalmol 17 part 2 1871 249 291
17. DA Mackey Epidemiology of Leber's hereditary optic neuropathy in Australia Clin Neurosci 2 1994 162 164
18. DA Mackey RG Buttery Leber hereditary optic neuropathy in Australia Aust NZ J Ophthalmol 20 1992 177 184
19. DA Mackey N Howell Tobacco amblyopia Am J Ophthalmol 117 1994 817 818
20. DA Mackey R-J Oostra T Rosenberg E Nikoskelainen J Bronte-Stewart J Poulton AE Harding Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy Am J Hum Genet 59 1996 481 485
21. D Mackey R-J Oostra T Rosenberg E Nikoskelainen J Poulton T Barratt P Bolhuis Reply to Hofmann et al Am J Hum Genet 62 1998 492 495
22. EK Nikoskelainen K Huoponen V Juvonen T Lamminen K Nummelin M-L Savontaus Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology 103 1996 504 514
23. P Riordan-Eva MD Sanders GG Govan MG Sweeney J Da Costa AE Harding The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain 118 1995 319 338
24. A Torroni M Petrozzi L D'Urbano D Sellitto M Zeviani F Carrara C Carducci Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 Am J Hum Genet 60 1997 1107 1121
25. AHC van Senus Leber's disease in the Netherlands Doc Ophthalmol 17 1963 1 162