mtDNA mutations that cause optic neuropathy: How do we know?

被引:45
作者
Howell, N [1 ]
Bogolin, C
Jamieson, R
Marenda, DR
Mackey, DA
机构
[1] Univ Texas, Med Branch, Dept Radiat Oncol, Dept Human Biol Chem & Genet,Div Biol 0656, Galveston, TX 77555 USA
[2] New Childrens Hosp, Dept Clin Genet, Sydney, NSW, Australia
[3] Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA
[4] Univ Melbourne, Dept Ophthalmol, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[6] Univ Tasmania, Menzies Ctr, Hobart, Tas, Australia
关键词
D O I
10.1086/301675
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:196 / 202
页数:7
相关论文
共 31 条
[1]   SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].
ANDERSON, S ;
BANKIER, AT ;
BARRELL, BG ;
DEBRUIJN, MHL ;
COULSON, AR ;
DROUIN, J ;
EPERON, IC ;
NIERLICH, DP ;
ROE, BA ;
SANGER, F ;
SCHREIER, PH ;
SMITH, AJH ;
STADEN, R ;
YOUNG, IG .
NATURE, 1981, 290 (5806) :457-465
[2]   Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) [J].
Brown, J ;
Fingert, JH ;
Taylor, CM ;
Lake, M ;
Sheffield, VC ;
Stone, EM .
ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (01) :95-99
[3]  
BROWN MD, 1994, CLIN NEUROSCI, V2, P138
[4]   PHYLOGENETIC ANALYSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNAS INDICATES MULTIPLE INDEPENDENT OCCURRENCES OF THE COMMON MUTATIONS [J].
BROWN, MD ;
TORRONI, A ;
RECKORD, CL ;
WALLACE, DC .
HUMAN MUTATION, 1995, 6 (04) :311-325
[5]  
DeVries DD, 1996, AM J HUM GENET, V58, P703
[6]   Increased risk of dementia in mothers of Alzheimer's disease cases: Evidence for maternal inheritance [J].
Edland, SD ;
Silverman, JM ;
Peskind, ER ;
Tsuang, D ;
Wijsman, E ;
Morris, JC .
NEUROLOGY, 1996, 47 (01) :254-256
[7]   Leber hereditary optic neuropathy: How do mitochondrial DNA mutations cause degeneration of the optic nerve? [J].
Howell, N .
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1997, 29 (02) :165-173
[8]  
Howell N, 1996, AM J HUM GENET, V59, P501
[9]  
HOWELL N, 1994, CLIN NEUROSCI, V2, P130
[10]  
HOWELL N, 1995, GENETICS, V140, P285