• 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

Congenital myopathy with cytoplasmic bodies.

作者信息

Goebel H H, Schloon H, Lenard H G

出版信息

Neuropediatrics. 1981 May;12(2):166-80. doi: 10.1055/s-2008-1059649.

DOI:10.1055/s-2008-1059649
PMID:6267501
Abstract

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofiber predominance of 96%, this girl's muscle disease represented "congenital myopathy with cytoplasmic bodies" as cytoplasmic bodies were recently reported in other sporadic and hereditary neuromuscular disorders of unknown origin.

摘要

相似文献

1
Congenital myopathy with cytoplasmic bodies.
Neuropediatrics. 1981 May;12(2):166-80. doi: 10.1055/s-2008-1059649.
2
Adult onset nemaline myopathy: a distinct nosologic entity?成人起病的杆状体肌病:一种独特的疾病实体?
Clin Neuropathol. 1993 May-Jun;12(3):153-5.
3
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family.
Neuropediatrics. 1981 May;12(2):152-65. doi: 10.1055/s-2008-1059648.
4
Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy.斑马体肌病:超微结构独特的先天性肌病的第二例病例。
J Child Neurol. 1987 Oct;2(4):307-10. doi: 10.1177/088307388700200415.
5
Familial nemaline myopathy.家族性杆状体肌病。
Neuropediatrics. 1982 Nov;13(4):211-5. doi: 10.1055/s-2008-1059625.
6
A benign form of reducing body myopathy.一种良性的进行性身体肌病。
Muscle Nerve. 1983 May;6(4):278-82. doi: 10.1002/mus.880060406.
7
Congenital myopathy with type 2A muscle fiber uniformity and smallness.
Neuropediatrics. 1992 Feb;23(1):10-3. doi: 10.1055/s-2008-1071303.
8
[Infantile form of nemaline (rod inclusion) myopathy].
Wien Klin Wochenschr. 1988 Jun 10;100(12):407-12.
9
Chronic neurogenic quadriceps amyotrophy.慢性神经源性股四头肌肌萎缩
Ann Neurol. 1977 Dec;2(6):528-30. doi: 10.1002/ana.410020614.
10
[Myotubular or centronuclear myopathy; report of a case and review of the literature].[肌管性或核中心性肌病;1例报告及文献复习]
Arq Neuropsiquiatr. 1977 Sep;35(3):247-59.

引用本文的文献

1
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.无典型棒状体的严重ACTA1相关肌病中的胞质体病理学
Neuromuscul Disord. 2017 Jun;27(6):531-536. doi: 10.1016/j.nmd.2017.02.012. Epub 2017 Mar 2.
2
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.两个新的MYH7脯氨酸替代导致具有可变表达性和颈部伸肌挛缩的莱宁远端肌病样表型。
BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1.
3
[Congenital and other myopathies].
[先天性及其他肌病]
Pathologe. 2009 Sep;30(5):365-9. doi: 10.1007/s00292-009-1169-5.
4
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein.先天性肌病中的胞质体可用抗结蛋白(一种肌肉特异性中间丝蛋白)抗体进行染色。
Acta Neuropathol. 1983;62(1-2):149-52. doi: 10.1007/BF00684933.
5
Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18- to 20-nm filaments.
Acta Neuropathol. 1990;80(4):406-14. doi: 10.1007/BF00307695.