Hereditary spastic paraplegia type 31: A novel splice site donor mutation and intra-familial phenotypic variability

被引:0
|
作者
Kamada, M. [1 ]
Kawarai, T. [2 ]
Kawakita, R. [3 ]
Miyamoto, R. [2 ]
Tojima, Y. [4 ]
Orlacchio, A. [5 ]
Kaji, R. [2 ]
机构
[1] Kagawa Univ, Dept Neurol Intractable Dis Res, Kagawa, Japan
[2] Tokushima Univ, Grad Sch, Dept Clin Neurosci, Inst Biomed Sci, Tokushima, Japan
[3] Kagawa Univ, Kagawa Univ Hosp, Dept Neurol, Kagawa, Japan
[4] Tokushima Univ, Fac Med, Tokushima, Japan
[5] Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, Lab Neurogenet, Ctr Europeo Ric Cervello CERC, Rome, Italy
关键词
D O I
10.1016/j.jns.2017.08.3296
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
1061
引用
收藏
页码:383 / 383
页数:1
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