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Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

โœ Scribed by GDJ Watts; D Thomasova; SK Ramdeen; EC Fulchiero; SG Mehta; DA Drachman; CC Weihl; Z Jamrozik; H Kwiecinski; A Kaminska; VE Kimonis

Book ID
110888481
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
471 KB
Volume
72
Category
Article
ISSN
0009-9163

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## Abstract ## Introduction: Inclusionโ€body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder due to mutations in the valosinโ€containing protein (VCP) gene. Patients with this disorder may have neuropathic or myopathic features. ## Methods