A new homozygous ISPD mutation is associated with either early limb-girdle or congenital muscular dystrophy within the same family depending on different levels of alpha-dystroglycan glycosylation

被引:0
|
作者
Baranello, G. [1 ]
Morandi, L. [1 ]
Sansanelli, S. [1 ]
Savadori, P. [1 ]
Saredi, S. [1 ]
Pantaleoni, C. [1 ]
Balestri, P. [2 ]
Malandrini, A. [2 ]
Arnoldi, M. T. [1 ]
Chiapparini, L. [1 ]
Mora, M. [1 ]
机构
[1] Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy
[2] Univ Siena, I-53100 Siena, Italy
关键词
D O I
10.1016/j.nmd.2014.06.401
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.311
引用
收藏
页码:915 / 915
页数:1
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