与线粒体DNA核苷酸位置8344处突变相关的临床变异性。 - Suppr

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超能文献

Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA.

作者信息

Campos Y, Martín M A, Vaamonde J, Cabello A, Esteban J, Arenas J

机构信息

Centro de Investigación, Hospital 12 de Octubre, Madrid, Spain.

出版信息

J Inherit Metab Dis. 1996;19(2):119-22. doi: 10.1007/BF01799408.

DOI:10.1007/BF01799408

PMID:8739944

Abstract

摘要

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Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA.与线粒体DNA核苷酸位置8344处突变相关的临床变异性。

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本文引用的文献

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.线粒体DNA转运RNA（赖氨酸）A→G（8344）突变与肌阵挛性癫痫伴破碎红纤维综合征（MERRF）。临床表型与突变型线粒体DNA比例的关系。

Brain. 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617.

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").与线粒体DNA 8344位核苷酸A→G转换相关的临床特征（“肌阵挛性癫痫伴破碎红纤维突变”）

Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200.

Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF).一个患有肌阵挛性癫痫伴破碎红纤维（MERRF）的家族的基因分析。

Muscle Nerve. 1994 Oct;17(10):1229-31.

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.一名患有线粒体肌病、乳酸性酸中毒和卒中样发作（MELAS）以及范科尼综合征患者的线粒体DNA缺失

Pediatr Neurol. 1995 Jul;13(1):69-72. doi: 10.1016/0887-8994(95)00082-q.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.肌阵挛性癫痫伴蓬毛样红纤维病（MERRF）与线粒体DNA 赖氨酸转运RNA（tRNA<sup>Lys</sup>）突变有关。

Cell. 1990 Jun 15;61(6):931-7. doi: 10.1016/0092-8674(90)90059-n.

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).意大利肌阵挛性癫痫伴蓬毛样红纤维（MERRF）家系中线粒体DNA A----G(8344)突变的快速检测

Am J Hum Genet. 1991 Feb;48(2):203-11.

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征的线粒体DNA tRNA（Lys）A→G（8344）突变的分离与表现

Am J Hum Genet. 1992 Dec;51(6):1201-12.

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