A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease

被引：8

作者：

Zis, Panagiotis ^{[1
,2
]}

Reilly, Mary M. ^{[3
]}

Rao, Dasappaiah G. ^{[1
]}

Tomaselli, Pedro ^{[3
]}

Rossor, Alex M. ^{[3
]}

Hadjivassiliou, Marios ^{[1
,2
]}

机构：

[1] Sheffield Teaching Hosp NHS Fdn Trust, Acad Dept Neurosci, Sheffield, S Yorkshire, England

[2] Univ Sheffield, Sheffield, S Yorkshire, England

[3] UCL Inst Neurol, MRC Ctr Neuromuscular Dis, Queen Sq, London, England

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2017年 / 22卷 / 03期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

CMT; FGD4; gene; mutation; neuropathy; TRANSCRIPTION FACTOR SOX10; WAARDENBURG-SYNDROME; HIRSCHSPRUNG-DISEASE; TRUNCATING MUTATIONS; PROTEIN ZERO; EXPRESSION; MECHANISM; TYPE-4; CONNEXIN-32; NEUROPATHY;

D O I：

10.1111/jns.12222

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：224 / 225

页数：2

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