A unique case of dystrophinopathy.
作者信息
Worzak F D, Mora M, Morandi L, Bernasconi P, Cornelio F, Ripamonti D
出版信息
J Neurol Neurosurg Psychiatry. 1994 Sep;57(9):1136-7. doi: 10.1136/jnnp.57.9.1136-a.
Abstract
摘要
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本文引用的文献
1
Very small dystrophin molecule in a family with a mild form of Becker dystrophy.一个患有轻度贝克型肌营养不良症的家族中发现的非常小的抗肌萎缩蛋白分子。
Neuromuscul Disord. 1993 Jan;3(1):65-70. doi: 10.1016/0960-8966(93)90043-j.
2
3
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.对导致杜氏和贝克肌营养不良症的基因缺失的进一步研究。
Genomics. 1988 Feb;2(2):109-14. doi: 10.1016/0888-7543(88)90091-2.
4
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.
5
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.通过聚合酶链反应检测98%的杜氏肌营养不良症/贝克型肌营养不良症基因缺失。
Hum Genet. 1990 Nov;86(1):45-8. doi: 10.1007/BF00205170.
6
Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy.杜兴氏和贝克氏肌营养不良症以及强直性肌营养不良症的诊断标准。
Neuromuscul Disord. 1991;1(6):389-91. doi: 10.1016/0960-8966(91)90001-9.
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