Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
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DOI：
10.1212/01.wnl.0000180407.15369.92
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发表时间：
2005-10-25
期刊：
影响因子：
9.9
通讯作者：
Zimprich, A
中科院分区：
文献类型：
--
作者：
Haubenberger, D;Bittner, RE;Zimprich, A
最近发现染色体9p13-p12上含缬氨酸蛋白（VCP）的突变与遗传性包涵体肌病、骨Paget病和额颞叶痴呆（IBMPFD）有关。我们发现了一个新的VCP基因错义突变（R159H; 688G > a）与该疾病分离在一个奥地利家庭的四个受影响的兄弟姐妹中，他们表现出进行性近端肌病和骨Paget病，但没有痴呆的临床症状。
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G > A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.