• 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

伴有声带麻痹的远端型脊髓性肌萎缩症

Distal spinal muscular atrophy with vocal cord paralysis.

作者信息

Pridmore C, Baraitser M, Brett E M, Harding A E

机构信息

Department of Clinical Genetics, Institute of Child Health, London.

出版信息

J Med Genet. 1992 Mar;29(3):197-9. doi: 10.1136/jmg.29.3.197.

DOI:10.1136/jmg.29.3.197
PMID:1552559
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015897/
Abstract

We describe a family with distal spinal muscular atrophy and vocal cord paralysis, similar to the condition reported by Young and Harper in 1980. Both pedigrees are consistent with autosomal dominant inheritance.

摘要

我们描述了一个患有远端脊髓性肌萎缩症和声带麻痹的家系,类似于1980年扬和哈珀所报道的病症。两个家系均符合常染色体显性遗传。

相似文献

1
Distal spinal muscular atrophy with vocal cord paralysis.伴有声带麻痹的远端型脊髓性肌萎缩症
J Med Genet. 1992 Mar;29(3):197-9. doi: 10.1136/jmg.29.3.197.
2
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?伴有声带麻痹和感音神经性听力损失的遗传性远端肌肉萎缩症:脊髓性肌萎缩症的一种显性形式?
J Med Genet. 1989 Feb;26(2):105-8. doi: 10.1136/jmg.26.2.105.
3
Hereditary distal spinal muscular atrophy with vocal cord paralysis.遗传性远端脊髓性肌萎缩伴声带麻痹
J Neurol Neurosurg Psychiatry. 1980 May;43(5):413-8. doi: 10.1136/jnnp.43.5.413.
4
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31.伴有声带麻痹的远端型脊髓性肌萎缩症(dSMA-VII)与5号染色体q31区域的MPD2基因座无关。
J Med Genet. 2000 Aug;37(8):E14. doi: 10.1136/jmg.37.8.e14.
5
[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome].
Rev Neurol (Paris). 1984;140(11):657-8.
6
Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14.
Neuromuscul Disord. 2002 Jan;12(1):26-30. doi: 10.1016/s0960-8966(01)00241-3.
7
[A case of X-linked bulbospinal muscular atrophy with bilateral abductor vocal cord paralysis].[1例伴双侧声带外展肌麻痹的X连锁性球脊髓性肌萎缩症]
Rinsho Shinkeigaku. 1996 May;36(5):683-6.
8
[Autosomal dominant adult-onset spinal muscular atrophy with vocal cord paralysis: a case report].[常染色体显性遗传成人起病型脊髓性肌萎缩症伴声带麻痹:一例报告]
Rinsho Shinkeigaku. 2000 Jul;40(7):712-6.
9
Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.韦尔尼克-霍夫曼病与具有明显常染色体显性遗传的慢性远端脊髓性肌萎缩症。
Ann Neurol. 1992 Sep;32(3):404-7. doi: 10.1002/ana.410320318.
10
Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.可能为常染色体隐性遗传的先天性声带麻痹:病例报告及文献综述
Am J Med Genet. 1996 Aug 23;64(3):485-7. doi: 10.1002/(SICI)1096-8628(19960823)64:3<485::AID-AJMG7>3.0.CO;2-O.

引用本文的文献

1
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.严重先天性肌无力综合征中的胆碱转运体突变会破坏转运体的定位。
Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249.
2
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.突触前高亲和力胆碱转运体受损导致先天性肌无力综合征伴发作性呼吸暂停。
Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
3
Defective presynaptic choline transport underlies hereditary motor neuropathy.遗传性运动神经病的根本原因是突触前胆碱转运缺陷。
Am J Hum Genet. 2012 Dec 7;91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.
4
Unraveling the genetics of distal hereditary motor neuronopathies.解析远端遗传性运动神经元病的遗传学
Neuromolecular Med. 2006;8(1-2):131-46. doi: 10.1385/nmm:8:1-2:131.
5
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.动力蛋白激活蛋白突变导致的远端脊髓和延髓肌肉萎缩
Ann Neurol. 2005 May;57(5):687-94. doi: 10.1002/ana.20468.
6
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.远端遗传性运动神经元病VII型(dHMN-VII)基因定位于2号染色体q14区域。
Am J Hum Genet. 2001 May;68(5):1270-6. doi: 10.1086/320122. Epub 2001 Apr 4.

本文引用的文献

1
[Chronic spinal amyotrophy with paralysis of the vocal cords: Young-Harper syndrome].
Rev Neurol (Paris). 1984;140(11):657-8.
2
Modification of vasopressin- and angiotensin II- induced changes by calcium antagonists in the peripheral circulation of anaesthetized rabbits.钙拮抗剂对麻醉兔外周循环中血管加压素和血管紧张素II诱导变化的影响
Br J Pharmacol. 1985 May;85(1):75-87. doi: 10.1111/j.1476-5381.1985.tb08833.x.