• 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

Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.

作者信息

de Weerdt C J

出版信息

Eur Neurol. 1978;17(6):336-44. doi: 10.1159/000114972.

DOI:10.1159/000114972
PMID:744199
Abstract

A family with Charcot-Marie-Tooth disease (CMT) is described. An irregular dominant sex-linked inheritance is observed. No linkage relationship between the Xg(a) blood group locus and the CMT locus was established. Abnormal values of the serum alkaline phosphatase level were found in affected and unaffected members.

摘要

相似文献

1
Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.
Eur Neurol. 1978;17(6):336-44. doi: 10.1159/000114972.
2
Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups.X连锁型夏科-马里-图斯氏肌萎缩症基因座与Xg血型基因座的连锁关系。
J Med Genet. 1976 Oct;13(5):399. doi: 10.1136/jmg.13.5.399.
3
Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.
J Neurogenet. 1986 Jul;3(4):225-31. doi: 10.3109/01677068609106852.
4
Recessive inheritance in a neuronal motor neuropathy form of peroneal muscular atrophy.
Rev Invest Clin. 1983 Oct-Dec;35(4):305-8.
5
Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk.夏科-马里-图思病：与年龄风险相关的遗传咨询数据。
Clin Genet. 1978 Jul;14(1):43-9. doi: 10.1111/j.1399-0004.1978.tb02059.x.
6
Serum enzymes in peroneal muscular atrophy (Charcot-Marie-Tooth disease).腓骨肌萎缩症（夏科-马里-图思病）中的血清酶
Wis Med J. 1977 Jan;76(1):S4-6.
7
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease.对一个可能患有X连锁神经元型夏科-马里-图斯病的家族进行的H反射研究。
Clin Neurol Neurosurg. 1982;84(3):147-58. doi: 10.1016/0303-8467(82)90037-3.
8
Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).夏科-马里-图思神经病变（遗传性运动感觉神经病I型）异质性的遗传连锁证据
Ann Neurol. 1983 Dec;14(6):679-84. doi: 10.1002/ana.410140612.
9
A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance.
Hereditas. 1982;97(1):157-8. doi: 10.1111/j.1601-5223.1982.tb00723.x.
10
Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.夏科-马里-图思病（遗传性运动感觉神经病Ib型）与1号染色体标记的遗传连锁关系。
Neurology. 1987 Feb;37(2):325-9. doi: 10.1212/wnl.37.2.325.

引用本文的文献

1
Molecular genetics of X-linked Charcot-Marie-Tooth disease.X连锁型夏科-马里-图斯病的分子遗传学
Neuromolecular Med. 2006;8(1-2):107-22. doi: 10.1385/nmm:8:1-2:107.
2
Linkage localization of X-linked Charcot-Marie-Tooth disease.X连锁型夏科-马里-图斯病的连锁定位
Am J Hum Genet. 1993 Feb;52(2):312-8.
3
Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers.
Hum Genet. 1980;55(3):413-5. doi: 10.1007/BF00290228.
4
Charcot-Marie-Tooth disease.夏科-马里-图思病
J Med Genet. 1983 Feb;20(1):77-8. doi: 10.1136/jmg.20.1.77.
5
X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
Hum Genet. 1985;70(1):38-42. doi: 10.1007/BF00389456.