Molecular analysis and diagnosis of Duchenne muscular dystrophy.

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作者信息

Forrest S M, Smith T J, Cross G S, Kenwrick S J, England S, Flint T, Davies K E

机构信息

Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.

出版信息

J R Coll Physicians Lond. 1988 Apr;22(2):65-7.

PMID:3294388

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5379393/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a3cc/5379393/885b032fd6ff/jrcollphyslond90340-0009-a.jpg

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Myopathy presenting as developmental delay and short stature.表现为发育迟缓及身材矮小的肌病。

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本文引用的文献

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.杜兴氏肌营养不良症基因部分候选cDNA的分离

Nature. 1986;323(6089):646-50. doi: 10.1038/323646a0.

Conservation of the Duchenne muscular dystrophy gene in mice and humans.杜兴氏肌肉营养不良基因在小鼠和人类中的保守性。

Science. 1987 Oct 16;238(4825):347-50. doi: 10.1126/science.3659917.

Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin.DMD基因的蛋白质序列与α-辅肌动蛋白的肌动蛋白结合结构域相关。

Cell. 1987 Oct 9;51(1):1. doi: 10.1016/0092-8674(87)90002-x.

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.一个来自杜兴氏/贝克氏肌肉萎缩症基因的cDNA克隆。

Nature. 1987;328(6129):434-7. doi: 10.1038/328434a0.

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.

Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

Nucleic Acids Res. 1987 Mar 11;15(5):2167-74. doi: 10.1093/nar/15.5.2167.

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.杜兴氏和贝克氏肌肉萎缩症患者中胎儿及成人肌肉cDNA的缺失

EMBO J. 1987 Nov;6(11):3277-83. doi: 10.1002/j.1460-2075.1987.tb02646.x.

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.与杜氏肌营养不良症相关的X;21易位断点的克隆

Nature. 1985;318(6047):672-5. doi: 10.1038/318672a0.

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.利用紧密连锁的DNA片段检测跨越杜氏肌营养不良症基因座的缺失

Nature. 1985;316(6031):842-5. doi: 10.1038/316842a0.

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.一个未受影响的男性两次传递的肌营养不良基因的部分缺失。

Nature. 1987;329(6139):556-8. doi: 10.1038/329556a0.

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