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Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

作者信息

Ilgaz Aydinlar Elif, Rolfs Arndt, Serteser Mustafa, Parman Yesim

机构信息

Department of Neurology, Acibadem University School of Medicine, Gulsuyu mah, Fevzi Cakmak Cad. Divan Sok, Maltepe, 34848, Istanbul, Turkey.

出版信息

Muscle Nerve. 2014 May;49(5):774-5. doi: 10.1002/mus.24145.

DOI:10.1002/mus.24145
PMID:24327336
Abstract
摘要

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Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.FAM134B基因突变导致一个土耳其家庭出现伴有痉挛的遗传性感觉神经病。
Muscle Nerve. 2014 May;49(5):774-5. doi: 10.1002/mus.24145.
2
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.遗传性感觉自主神经病 II 型：FAM134B 基因突变的两个新病例报告。
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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.编码一种新发现的高尔基体蛋白的FAM134B基因发生突变，会导致严重的感觉和自主神经病变。
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Mutation in FAM134B causing severe hereditary sensory neuropathy.FAM134B 基因突变导致严重遗传性感觉神经病。
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Plantar ulcers in hereditary sensory neuropathy. A plea for conservative treatment.遗传性感觉神经病中的足底溃疡。呼吁采取保守治疗。
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