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J. Vilkki, M. Savontaus, E. Nikoskelainen (1989)
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.American journal of human genetics, 45 2
Huoponen (1993)
379Hum Genet, 92
E. Stone, N. Newman, N. Miller, D. Johns, M. Lott, D. Wallace (1992)
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.Journal of clinical neuro-ophthalmology, 12 1
Newman (1993)
431Ophthalmol Clin NA, 4
Michael Brown, D. Wallace (1994)
Molecular basis of mitochondrial DNA diseaseJournal of Bioenergetics and Biomembranes, 26
Michael Brown, A. Voljavec, M. Lott, Ian MacDonald, D. Wallace (1992)
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseasesThe FASEB Journal, 6
N. Howell, I. Kubacka, S. Halvorson, D. Mackey (1993)
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.Genetics, 133 1
Howell (1993a)
133Genetics, 133
Michael Brown, Chi-Chuan Yang, I. Trounce, A. Torroni, M. Lott, Douglas Wallace (1992)
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.American journal of human genetics, 51 2
I. Holt, D Miller, A. Harding (1989)
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.Journal of Medical Genetics, 26
Huoponen (1991)
1147Am J Hum Genet, 48
D. Johns, M. Neufeld (1993)
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.Biochemical and biophysical research communications, 196 2
MD Brown, DC Wallace (1994a)
The spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathyClin Neurosci, 2
Johns (1993a)
495Arch Ophthalmol, 111
D. Johns, Kyle Smith, P. Savino, Neil Miller (1993)
Leber's Hereditary Optic Neuropathy: Clinical Manifestations of the 15257 MutationOphthalmology, 100
D. Johns, D. Cornblath (1991)
Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions.Biochemical and biophysical research communications, 174 1
A. Torroni, M. Lott, M. Cabell, Yu-Sheng Chen, L. Lavergne, Douglas Wallace (1994)
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.American journal of human genetics, 55 4
Brown (1994a)
138Clin Neurosci, 2
Mashima (1993)
101Hum Genet, 92
A. Torroni, T. Schurr, M. Cabell, Michael Brown, J. Neel, M. Larsen, D. Smith, C. Vullo, Douglas Wallace (1993)
Asian affinities and continental radiation of the four founding Native American mtDNAs.American journal of human genetics, 53 3
D. Wallace, G. Singh, M. Lott, J. Hodge, T. Schurr, A. Lezza, L. Elsas, E. Nikoskelainen (1988)
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.Science, 242 4884
Howell (1993b)
959Am J Hum Genet, 53
Johns Dr (1992)
Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.American Journal of Human Genetics, 50
K. Huoponen, J. Vilkki, P. Aula, E. Nikoskelainen, M. Savontaus (1991)
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.American journal of human genetics, 48 6
Howell (1991a)
939Am J Hum Genet, 49
M. Brown, A. Torroni, K. Huoponen, Y. Chen, M. Lott, D. Wallace (1994)
Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy.American journal of human genetics, 55 2
D. Johns, M. Neufeld, Raymond Park (1992)
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.Biochemical and biophysical research communications, 187 3
Korman (1991)
98Hum Genet, 88
N. Newman, M. Lott, Douglas Wallace (1991)
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.American journal of ophthalmology, 111 6
Brown (1994b)
410Am J Hum Genet, 55
Stone (1992)
10J Clin Neurb Ophthalmol, 12
Nancy Newman, A. Torroni, Michael Brown, M. Lott, Melba Fernandez, Douglas Wallace (1994)
Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team.American journal of ophthalmology, 118 2
G. Singh, M. Lott, D. Wallace (1989)
A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.The New England journal of medicine, 320 20
D. Johns, Joy Berman (1991)
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.Biochemical and biophysical research communications, 174 3
N. Howell, L. Bindoff, D. McCullough, I. Kubacka, J. Poulton, D. Mackey, L. Taylor, Turnbull Dm (1991)
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.American journal of human genetics, 49 5
MD Brown, AS Voljavec, MT Lott, A Torroni, C‐C Yang, DC Wallace (1992a)
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathyGenetics, 130
D Swofford (1992)
Phylogenetic Analysis Using Parsimony Analysis (PAUP) 3.0s
A. Torroni, T. Schurr, Chi-Chuan Yang, E. Szathmáry, R. Williams, M. Schanfield, G. Troup, W. Knowler, Dale Lawrence, K. Weiss (1992)
Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations.Genetics, 130 1
Howell (1991b)
935Am J Hum Genet, 48
N. Howell, S. Halvorson, J. Burns, D. McCullough, J. Paulton (1993)
When does bilateral optic atrophy become Leber hereditary optic neuropathy?American journal of human genetics, 53 4
S. Anderson, A. Bankier, B. Barrell, M. Bruijn, A. Coulson, J. Drouin, J. Drouin, I. Eperon, D. Nierlich, D. Nierlich, B. Roe, B. Roe, F. Sanger, P. Schreier, A. Smith, R. Staden, I. Young, I. Young (1981)
Sequence and organization of the human mitochondrial genomeNature, 290
M. Denaro, H. Blanc, M. Johnson, K. Chen, E. Wilmsen, L. Cavalli-Sforza, D. Wallace (1981)
Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA.Proceedings of the National Academy of Sciences of the United States of America, 78 9
D. Johns, K. Heher, N. Miller, Kyle Smith (1992)
Leber's hereditary optic neuropathy : clinical manifestations of the 14484 mutationArchives of Ophthalmology, 111
(1992)
Phylogenetic Analysis Using Parsimony Analysis (PAUP) 3.0s. Illinois Natural History Survey
Brown (1992a)
163Genetics, 130
V. Carelli, A. Ghelli, M. Ratta, E. Bacchilega, S. Sangiorgi, R. Mancini, V. Leuzzi, P. Cortelli, P. Montagna, E. Lugaresi, M. Esposti (1997)
Leber's hereditary optic neuropathyNeurology, 48
Johns (1992)
872Am J Hum Genet, 50
D. Mackey, N. Howell (1992)
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.American journal of human genetics, 51 6
Mackey (1992)
1218Am J Hum Genet, 51
Paul Brown, L. Cervenakova, L. Goldfarb, W. Mccombie, Richard Rubenstein, Robert Will, Maurizio Pocchiari, Juan Martínez-Lage, C. Scalici, Carlo Masullo, G. Graupera, J. Ligan, D. Gajdusek (1994)
Iatrogenic Creutzfeldt‐Jakob diseaseNeurology, 44
D. Johns, M. Neufeld (1991)
Cytochrome b mutations in Leber hereditary optic neuropathy.Biochemical and biophysical research communications, 181 3
N. Howell, I. Kubacka, M. Xu, D. McCullough (1991)
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.American journal of human genetics, 48 5
A. Jun, Michael Brown, Douglas Wallace (1994)
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.Proceedings of the National Academy of Sciences of the United States of America, 91 13
Douglas Wallace (1992)
Diseases of the mitochondrial DNA.Annual review of biochemistry, 61
MD Brown, A Torroni, K Houponen, Y‐S Chen, MT Lott, DC Wallace (1994b)
Pathological significance of the mitochondrial DNA COIII mutation at np 9438 in Leber's hereditary optic neuropathyAm J Hum Genet, 55
D. Johns, K. Smith, N. Miller (1992)
Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.Archives of ophthalmology, 110 11
Brown (1992c)
378Am J Hum Genet, 51
The mitochondrial DNAs (mtDNA) from 17 Caucasian 11778‐positive and 30 Caucasian 11778‐negative Leber's hereditary optic neuropathy (LHON) patients were PCR‐amplified and subjected to high resolution restriction endonuclease analysis. Concurrently, all patient mtDNAs were screened for the common primary LHON mtDNA mutations at nucleotide pairs (nps) 3460, 11778, and 14484, the ambiguous intermediate‐risk LHON mtDNA mutations at nps 5244 and 15257, and the secondary LHON mtDNA mutations at nps 3394, 4216, 4917, 7444, 13708, and 15812. Phylogenetic analysis was performed using mtDNA haplotype data from the 47 LHON patients and 175 non‐LHON Caucasian controls. The superimposition of the LHON mutation screening results upon the Caucasian mtDNA phylogeny revealed (1) 35 different LHON haplotypes, (2) that all three common primary mutations have occurred multiple times in Caucasians, (3) that while recurrent mutation is common for the primary mutations, secondary mutations tend to be lineage‐specific, (4) that the np 15257 mutation was confined to a single mtDNA lineage but may be etiologically important in some LHON cases since it was found in a LHON pedigree which lacked a common primary mutation; complete sequence analysis of the proband mtDNA revealed only a single other candidate missense mutation (at np 10663 of the ND4L gene) of uncertain pathological significance; and (5) that the np 14484 mutation may be less pathogenic than either the np 3460 or np 11778 mutations, as this mutation most commonly occurred on a single mtDNA lineage and almost always in association with secondary LHON mutations. A phylogenetic ageneous disease has thus provided key genetic data bearing on the relative pathogenicity of the LHON‐associated mtDNA mutations. © 1995 Wiley‐Liss, Inc.
Human Mutation – Wiley
Published: Jan 1, 1995
Keywords: Leber's hereditary optic neuropathy; Mitochondrial DNA mutations; Mitochondrial DNA haplotypes; Phylogenetic analysis; Primary LHON mutations
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