Mitochondrial gene mutations and human diseases: a prolegomenon.
作者信息
Howell N
出版信息
Am J Hum Genet. 1994 Aug;55(2):219-24.
Abstract
摘要
相似文献
1
Mitochondrial gene mutations and human diseases: a prolegomenon.线粒体基因突变与人类疾病：绪论
Am J Hum Genet. 1994 Aug;55(2):219-24.
2
Mitochondrial encephalomyopathies.线粒体脑肌病
Curr Opin Neurol Neurosurg. 1992 Dec;5(6):909-16.
3
Update in molecular genetics: mitochondrial energy transduction disorders.分子遗传学进展：线粒体能量转导障碍
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:155-61.
4
Mitochondrial encephalomyopathies.线粒体脑肌病
Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008.
5
Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON.细胞色素c氧化酶的内在解偶联可能导致母系遗传的线粒体疾病MELAS和LHON。
FEBS Lett. 1998 Aug 14;433(1-2):93-7. doi: 10.1016/s0014-5793(98)00891-6.
6
Mitochondrial diseases.线粒体疾病
Curr Opin Neurol Neurosurg. 1992 Oct;5(5):622-32.
7
A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies.一种用于筛查与线粒体脑肌病相关点突变的快速灵敏的聚合酶链反应（PCR）方法。
Biochem Biophys Res Commun. 1994 Apr 29;200(2):938-42. doi: 10.1006/bbrc.1994.1540.
8
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.ND5基因中13513位的线粒体DNA G13513A转换与Leber遗传性视神经病变（LHON）/线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）重叠综合征相关，可能是MELAS的常见病因。
Ann Neurol. 1999 Dec;46(6):916-9. doi: 10.1002/1531-8249(199912)46:6<916::aid-ana16>3.0.co;2-r.
9
[Mitochondrial disease].
Nippon Ganka Gakkai Zasshi. 1995 Jun;99(6):629-30.
10
Mitochondrial DNA mutations and pathogenesis.线粒体DNA突变与发病机制。
J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755.
引用本文的文献
1
Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.上睑下垂、眼肌麻痹和角膜内皮疾病——线粒体疾病的眼部表现
Am J Ophthalmol Case Rep. 2021 Mar 17;22:101073. doi: 10.1016/j.ajoc.2021.101073. eCollection 2021 Jun.
2
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.对患有Leber遗传性视神经病变的荷兰家系线粒体基因组进行序列分析。
Am J Hum Genet. 2003 Jun;72(6):1460-9. doi: 10.1086/375537. Epub 2003 May 6.
3
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?莱伯遗传性视神经病变：线粒体DNA突变如何导致视神经变性？
J Bioenerg Biomembr. 1997 Apr;29(2):165-73. doi: 10.1023/a:1022690030664.
4
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.来自Leber遗传性视神经病变家系的线粒体基因组的系统发育分析。
Genetics. 1995 May;140(1):285-302. doi: 10.1093/genetics/140.1.285.
本文引用的文献
1
Leber's hereditary optic neuropathy. New genetic considerations.莱伯遗传性视神经病变。新的遗传学考量。
Arch Neurol. 1993 May;50(5):540-8. doi: 10.1001/archneur.1993.00540050082021.
2
Distance stereoacuity. Assessing control in intermittent exotropia.远距离立体视锐度。评估间歇性外斜视的控制情况。
Ophthalmology. 1993 Apr;100(4):495-500. doi: 10.1016/s0161-6420(93)31616-7.
3
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.莱伯遗传性视神经病变。14484突变的临床表现。
Arch Ophthalmol. 1993 Apr;111(4):495-8. doi: 10.1001/archopht.1993.01090040087038.
4
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.莱伯遗传性视神经病变：线粒体细胞色素b基因突变的病因学作用
Genetics. 1993 Jan;133(1):133-6. doi: 10.1093/genetics/133.1.133.
5
Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy.使用局部1H核磁共振波谱法对亨廷顿舞蹈病患者体内能量代谢受损的证据。
Neurology. 1993 Dec;43(12):2689-95. doi: 10.1212/wnl.43.12.2689.
6
Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.Leber遗传性视神经病变中的细胞色素c氧化酶突变
Biochem Biophys Res Commun. 1993 Oct 29;196(2):810-5. doi: 10.1006/bbrc.1993.2321.
7
Heteroplasmy in Leber's hereditary optic neuropathy.
Arch Ophthalmol. 1993 Nov;111(11):1486-90. doi: 10.1001/archopht.1993.01090110052022.
8
Mitochondrial encephalomyopathies.线粒体脑肌病
Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008.
9
An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.
Am J Hum Genet. 1993 Oct;53(4):964-5.
10
When does bilateral optic atrophy become Leber hereditary optic neuropathy?双侧视神经萎缩何时会转变为Leber遗传性视神经病变？
Am J Hum Genet. 1993 Oct;53(4):959-63.
Zotero 插件