线粒体基因型与临床表型。 - Suppr

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超能文献

Mitochondrial genotype and clinical phenotype.

作者信息

Chinnery P F, Turnbull D M

机构信息

Department of Neurology, University of Newcastle upon Tyne, UK.

出版信息

J Inherit Metab Dis. 1998 Jun;21(4):321-5. doi: 10.1023/a:1005357221101.

DOI:10.1023/a:1005357221101

PMID:9700589

Abstract

摘要

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本文引用的文献

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.

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及肌阵挛性癫痫伴破碎红纤维病（MERRF）的分子病理学。突变负荷与临床表型之间的关系。

Brain. 1997 Oct;120 ( Pt 10):1713-21. doi: 10.1093/brain/120.10.1713.

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.

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.

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice.异质性小鼠中不同线粒体DNA基因型的组织特异性选择

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Annu Rev Genet. 1995;29:151-78. doi: 10.1146/annurev.ge.29.120195.001055.

Mitochondrial DNA and RNA processing in MELAS.线粒体脑肌病伴乳酸血症和卒中样发作中的线粒体DNA与RNA加工

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