• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Becker-type muscular dystrophy. Report of a family with one postmortem study.

作者信息

Martin J J, Leroy J, Ceuterick C, Lübke U, Van Buggenhout E, Van Vuchelen J, Van Broeckhoven C

机构信息

Department of Neurology, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Belgium.

出版信息

Clin Neurol Neurosurg. 1992;94 Suppl:S123-6. doi: 10.1016/0303-8467(92)90045-5.

DOI:10.1016/0303-8467(92)90045-5
PMID:1320486
Abstract

Becker-type muscular dystrophy (BMD) is reported in two brothers. In one of the patients, the molecular demonstration of an in-frame deletion of exons 45, 46 and 47 has confirmed the clinical and pathological diagnosis of BMD. The autopsy of the other patient revealed mild neuronal losses in the anterior horns at C8, lumbar and sacral levels of the spinal cord. Mild neuronal losses in the spinal cord may explain the mixed type of neurogenic-myogenic features in the skeletal muscles of adult BMD patients.

摘要

相似文献

1
Becker-type muscular dystrophy. Report of a family with one postmortem study.
Clin Neurol Neurosurg. 1992;94 Suppl:S123-6. doi: 10.1016/0303-8467(92)90045-5.
2
Phenotypic Duchenne muscular dystrophy with C-terminal domain.具有C末端结构域的表型杜氏肌营养不良症
Pediatr Neurol. 1992 Jul-Aug;8(4):310-2. doi: 10.1016/0887-8994(92)90373-7.
3
Deletion analysis for Duchenne (and Becker) muscular dystrophy.
Aust Paediatr J. 1989 Oct;25(5):292-5. doi: 10.1111/j.1440-1754.1989.tb01480.x.
4
Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature.
Muscle Nerve. 1986 Jul-Aug;9(6):481-5. doi: 10.1002/mus.880090602.
5
[The molecular principles of Duchenne and Becker muscular dystrophy and their genetic diagnosis].
Z Arztl Fortbild (Jena). 1989;83(3):117-20.
6
[Membrane changes in Duchenne/Becker muscular dystrophy: lectin binding and localization of dystrophin].[杜兴氏/贝克氏肌肉萎缩症中的膜变化:凝集素结合与肌营养不良蛋白的定位]
Monatsschr Kinderheilkd. 1989 Jan;137(1):20-7.
7
Xp21 DNA probe in diagnosis of muscular dystrophy and spinal muscular atrophy.
Lancet. 1989 Feb 25;1(8635):443. doi: 10.1016/s0140-6736(89)90044-5.
8
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.与人类X染色体Xp21缺失相关的轻度和重度肌肉萎缩症。
J Med Genet. 1988 Jan;25(1):9-13. doi: 10.1136/jmg.25.1.9.
9
Dystrophin or a "related protein" in Duchenne muscular dystrophy?杜兴氏肌营养不良症中的抗肌萎缩蛋白或“相关蛋白”?
Acta Neurol Scand. 1992 Jul;86(1):8-14. doi: 10.1111/j.1600-0404.1992.tb08046.x.
10
Manifesting carrier of x-linked Duchenne muscular dystrophy.
J Neurol Sci. 1981 Mar;49(3):455-63. doi: 10.1016/0022-510x(81)90034-4.