Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

被引：15
|
作者：
Tasca, Giorgio [1 ]
Fattori, Fabiana [2 ]
Monforte, Mauro [3 ]
Hedberg-Oldfors, Carola [4 ]
Sabatelli, Mario [3 ]
Udd, Bjarne [5 ,6 ,7 ,8 ]
Boldrini, Renata [9 ]
Bertini, Enrico [2 ]
Ricci, Enzo [3 ]
Oldfors, Anders [4 ]
机构：
[1] Don Carlo Gnocchi ONLUS Fdn, Milan, Italy
[2] Bambino Gesu Childrens Res Hosp, Unit Neuromuscular Disorders, Mol Med Lab, Rome, Italy
[3] Catholic Univ, Inst Neurol, Sch Med, Largo A Gemelli 8, I-00168 Rome, Italy
[4] Univ Gothenburg, Inst Biomed, Dept Pathol, Gothenburg, Sweden
[5] Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Dept Med Genet, Helsinki, Finland
[6] Univ Tampere, Neuromuscular Res Ctr, Tampere, Finland
[7] Tampere Univ Hosp, Tampere, Finland
[8] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland
[9] Bambino Gesu Childrens Res Hosp, Dept Pathol, Rome, Italy
来源：
JOURNAL OF NEUROLOGY | 2016年 / 263卷 / 10期
关键词：
GLYCOGENIN-1; DEFICIENCY;
D O I：
10.1007/s00415-016-8268-z
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：2133 / 2135
页数：3
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