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Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers.

作者信息

Fryns J P, Van den Berghe H

出版信息

Hum Genet. 1980;55(3):413-5. doi: 10.1007/BF00290228.

DOI:10.1007/BF00290228
PMID:7203475
Abstract

A large kindred with sex-linked recessive inheritance of Charcot-Marie-Tooth disease is presented. Partial clinical manifestations without functional disability and decreased nerve conduction velocity was demonstrated in the female heterozygotes.

摘要

相似文献

1
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.
2
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3
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BMC Cell Biol. 2016 May 24;17 Suppl 1(Suppl 1):17. doi: 10.1186/s12860-016-0092-x.
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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.
3
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

本文引用的文献

1
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.伴有腓骨肌萎缩的下运动神经元和初级感觉神经元疾病。II. 各种神经元变性的神经学、遗传学和电生理发现。
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由连接蛋白32突变形式形成的缝隙连接通道的功能改变:功能丧失作为X连锁型夏科-马里-图斯病致病机制的证据。
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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.1型遗传性运动感觉神经病中的腊肠样神经病
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Charcot-Marie-Tooth disease.夏科-马里-图思病
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Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.X连锁隐性遗传性夏科-马里-图思神经病的异质性。
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