NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

被引：54
|
作者：
Ricci, E
Broccolini, A
Gidaro, T
Morosetti, R
Gliubizzi, C
Frusciante, R
Di Lella, GM
Tonali, PA
Mirabella, M
机构：
[1] Catholic Univ Rome, Dept Neurosci, I-00168 Rome, Italy
[2] Catholic Univ Rome, Inst Radiol, I-00168 Rome, Italy
[3] Fdn Don Carlo Gnocchi Onlus, Rome, Italy
[4] UILDM, Rome Sect, Rome, Italy
来源：
NEUROLOGY | 2006年 / 66卷 / 05期
关键词：
D O I：
10.1212/01.wnl.0000200956.76449.3f
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.
引用
收藏
页码：755 / 758
页数：4
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