Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

被引：13
|
作者：
Frasquet, M. [1 ,2 ,3 ]
Chumillas, M. J. [1 ,3 ,4 ]
Vilchez, J. J. [1 ,2 ,3 ,5 ]
Marquez-Infante, C. [6 ]
Palau, F. [3 ,7 ,8 ,9 ,10 ]
Vazquez-Costa, J. F. [1 ,2 ,3 ]
Lupo, V. [3 ,7 ]
Espinos, C. [3 ,7 ]
Sevilla, T. [1 ,2 ,3 ,5 ]
机构：
[1] Inst Invest Sanitaria La Fe IIS La Fe, Neuromuscular Res Unit, Valencia, Spain
[2] Hosp Univ & Politecn La Fe, Dept Neurol, Ave Fernando Abril Martorell 106, Valencia 46026, Spain
[3] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
[4] Hosp Univ & Politecn La Fe, Dept Clin Neurophysiol, Valencia, Spain
[5] Univ Valencia, Dept Med, Valencia, Spain
[6] Hosp Univ Virgen del Rocio, Dept Neurol, Seville, Spain
[7] CIPF, Program Rare & Genet Dis & IBV CSIC Associated Un, Valencia, Spain
[8] Hosp St Joan de Deu, Dept Genet & Mol Med, IPER, Barcelona, Spain
[9] Hosp St Joan de Deu, Inst Recerca Pediat, Barcelona, Spain
[10] Univ Barcelona, Dept Pediat, Barcelona, Spain
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2016年 / 87卷 / 11期
关键词：
CLINICAL SPECTRUM;
D O I：
10.1136/jnnp-2015-312890
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1265 / U147
页数：4
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