Mitochondrial encephalomyopathies

被引:24
作者
Shoubridge, EA
机构
[1] McGill Univ, Montreal Neurol Inst, Montreal, PQ H3A 2B4, Canada
[2] McGill Univ, Dept Human Genet, Montreal, PQ H3A 2B4, Canada
关键词
D O I
10.1097/00019052-199810000-00012
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
It is nearly a decade since the discovery of the first mutations in mitochondrial DNA associated with mitochondrial encephalomyopathy, and the pace of discovery of new mitochondrial DNA mutations continues unabated. Nuclear gene defects in these disorders have been more difficult to identify; only one is known, but others have been mapped by linkage analysis. The rules governing transmission and segregation of mitochondrial DNA sequence variants are beginning to be unravelled and progress has been made in understanding genotype-phenotype relationships and elucidating mechanisms of pathogenesis. Curr Opin Neurol 11:491-496. (C) 1998 Lippincott Williams & Wilkins.
引用
收藏
页码:491 / 496
页数:6
相关论文
共 79 条
[1]   Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome [J].
Adams, PL ;
Lightowlers, RN ;
Turnbull, DM .
ANNALS OF NEUROLOGY, 1997, 41 (02) :268-270
[2]   Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes [J].
Bidooki, SK ;
Johnson, MA ;
ChrzanowskaLightowlers, Z ;
Bindoff, LA ;
Lightowlers, RN .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1430-1438
[3]   Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes [J].
Blok, RB ;
Gook, DA ;
Thorburn, DR ;
Dahl, HHM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1495-1501
[4]   MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY [J].
BOURGERON, T ;
RUSTIN, P ;
CHRETIEN, D ;
BIRCHMACHIN, M ;
BOURGEOIS, M ;
VIEGASPEQUIGNOT, E ;
MUNNICH, A ;
ROTIG, A .
NATURE GENETICS, 1995, 11 (02) :144-149
[5]   Bottlenecks and beyond: Mitochondrial DNA segregation in health and disease [J].
Brown, GK .
JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (01) :2-8
[6]  
Brown MD, 1997, AM J HUM GENET, V60, P381
[7]   Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome [J].
Brown, RM ;
Brown, GK .
JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (06) :752-760
[8]   Primary adrenal insufficiency in a child with a mitochondrial DNA deletion [J].
Bruno, C ;
Minetti, C ;
Tang, Y ;
Magalhaes, PJ ;
Santorelli, FM ;
Shanske, S ;
Bado, M ;
Cordone, G ;
Gatti, R ;
DiMauro, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (02) :155-161
[9]   Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses [J].
Carrozzo, R ;
Hirano, M ;
Fromenty, B ;
Casali, C ;
Santorelli, FM ;
Bonilla, E ;
DiMauro, S ;
Schon, EA ;
Miranda, AF .
NEUROLOGY, 1998, 50 (01) :99-106
[10]   A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis [J].
Chinnery, PF ;
Johnson, MA ;
Taylor, RW ;
Lightowlers, RN ;
Turnbull, DM .
ANNALS OF NEUROLOGY, 1997, 41 (03) :408-410