Mitochondrial DNA mutations and pathogenicity.
作者信息
Chinnery P F, Turnbull D M, Howell N, Andrews R M
出版信息
J Med Genet. 1998 Aug;35(8):701-2. doi: 10.1136/jmg.35.8.701-a.
Abstract
摘要
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本文引用的文献
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UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.
J Med Genet. 1998 Mar;35(3):263. doi: 10.1136/jmg.35.3.263.
2
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.一名患有线粒体DNA突变患者的富克斯角膜营养不良
J Med Genet. 1998 Mar;35(3):258-9. doi: 10.1136/jmg.35.3.258.
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"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.科芬-洛里综合征中的“猝倒症”与肌肉超声异常
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Mitochondrial medicine.线粒体医学
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Clinical features, investigation, and management of patients with defects of mitochondrial DNA.线粒体DNA缺陷患者的临床特征、检查及管理
J Neurol Neurosurg Psychiatry. 1997 Nov;63(5):559-63. doi: 10.1136/jnnp.63.5.559.
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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.
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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.
8
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.单倍型和系统发育分析表明，一种欧洲特有的线粒体DNA背景通过增加原发性突变11778和14484的外显率，在Leber遗传性视神经病变的表达中发挥作用。
Am J Hum Genet. 1997 May;60(5):1107-21.
9
The other human genome: mitochondrial DNA and disease.另一个人类基因组：线粒体DNA与疾病
Nat Med. 1996 Oct;2(10):1065-8. doi: 10.1038/nm1096-1065.
10
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy.
Arch Ophthalmol. 1996 Jan;114(1):15-8. doi: 10.1001/archopht.1996.01100130013002.
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