Recent advances in understanding muscular dystrophy.
作者信息
Bushby K M
机构信息
Department of Human Genetics, Newcastle upon Tyne.
出版信息
Arch Dis Child. 1992 Oct;67(10):1310-2. doi: 10.1136/adc.67.10.1310.
Abstract
摘要
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Recent advances in understanding muscular dystrophy.肌肉萎缩症认识方面的最新进展。
Arch Dis Child. 1992 Oct;67(10):1310-2. doi: 10.1136/adc.67.10.1310.
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[Molecular bases of progressive muscular dystrophy].
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[The distribution of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in Ukraine].[乌克兰杜氏肌营养不良症患者肌营养不良蛋白基因缺失的分布情况]
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[Analysis of deletions in the dystrophin gene by the multiplex amplification method in patients suffering from Duchenne's muscular dystrophy].[采用多重扩增法对杜氏肌营养不良症患者肌营养不良蛋白基因缺失情况的分析]
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Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion.贝克肌肉萎缩症患者中的额外抗肌萎缩蛋白片段：与DNA缺失模式的相关性
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More deletions in the 5' region than in the central region of the dystrophin gene were identified among Filipino Duchenne and Becker muscular dystrophy patients.在菲律宾杜兴氏和贝克氏肌肉营养不良患者中，发现肌营养不良蛋白基因5'区域的缺失比中央区域更多。
Am J Med Genet. 1995 Nov 6;59(2):266-7. doi: 10.1002/ajmg.1320590228.
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[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].[杜兴氏和贝克氏肌营养不良症中肌营养不良蛋白基因内的缺失]
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Dystrophin-associated proteins and the muscular dystrophies.肌营养不良蛋白相关蛋白与肌营养不良症
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本文引用的文献
1
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.杜兴氏肌营养不良症（DMD）cDNA的完整克隆以及正常个体和患病个体中DMD基因的初步基因组结构
Cell. 1987 Jul 31;50(3):509-17. doi: 10.1016/0092-8674(87)90504-6.
2
Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.
Hum Genet. 1988 Sep;80(1):59-62. doi: 10.1007/BF00451457.
3
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.对携带DMD基因座部分缺失的患者之间表型差异的一种解释。
Genomics. 1988 Jan;2(1):90-5. doi: 10.1016/0888-7543(88)90113-9.
4
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.肌营养不良蛋白：杜氏肌营养不良基因座的蛋白质产物。
Cell. 1987 Dec 24;51(6):919-28. doi: 10.1016/0092-8674(87)90579-4.
5
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.杜兴氏或贝克氏肌肉营养不良症患者肌肉活检标本中抗肌萎缩蛋白的特征分析。
N Engl J Med. 1988 May 26;318(21):1363-8. doi: 10.1056/NEJM198805263182104.
6
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.肌营养不良蛋白的完整序列预示着一种杆状细胞骨架蛋白。
Cell. 1988 Apr 22;53(2):219-28. doi: 10.1016/0092-8674(88)90383-2.
7
Increased protein degradation results from elevated free calcium levels found in muscle from mdx mice.在mdx小鼠的肌肉中发现，游离钙水平升高导致蛋白质降解增加。
Nature. 1988 Oct 20;335(6192):735-8. doi: 10.1038/335735a0.
8
The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken.鸡肌营养不良蛋白cDNA：人与鸡之间C端编码区和3'非翻译区的显著保守性。
EMBO J. 1988 Dec 20;7(13):4157-62. doi: 10.1002/j.1460-2075.1988.tb03311.x.
9
Feline muscular dystrophy with dystrophin deficiency.伴有肌营养不良蛋白缺乏的猫肌肉萎缩症
Am J Pathol. 1989 Nov;135(5):909-19.
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Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.家族性X连锁性肌痛和痉挛：一种与肌营养不良蛋白基因缺失相关的非进行性肌病。
Neurology. 1989 Oct;39(10):1277-80. doi: 10.1212/wnl.39.10.1277.
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