A NOVEL MUTATION IN THE VCP GENE (G157R) IN A GERMAN FAMILY WITH INCLUSION-BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

被引：46

作者：

Djamshidian, Atbin ^{[1
]}

Schaefer, Jochen ^{[2
]}

Haubenberger, Dietrich ^{[1
]}

Stogmann, Elisabeth ^{[1
]}

Zimprich, Friedrich ^{[1
]}

Auff, Eduard ^{[1
]}

Zimprich, Alexander ^{[1
]}

机构：

[1] Med Univ Vienna, Dept Neurol, A-1097 Vienna, Austria

[2] Univ Dresden, Dept Neurol, Dresden, Germany

来源：

MUSCLE & NERVE | 2009年 / 39卷 / 03期

关键词：

VCP; G157R; IBMPFD; hearing loss; mutation; VALOSIN-CONTAINING PROTEIN;

D O I：

10.1002/mus.21225

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N-terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD. Muscle Nerve 39: 389-391, 2009

引用

页码：389 / 391

页数：3

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