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O2-05-03: Inclusion body myopathy with paget disease of the bone and frontotemporal dementia: New families, a novel mutation, and a new clinical presentation

✍ Scribed by Salvatore Spina; Amber D. Van Laar; Jill R. Murrell; Gabrielle de Courten-Myers; Ronald L. Hamilton; Ruben Vidal; Martin R. Farlow; John Quinlan; Steven T. DeKosky; Bernardino Ghetti

Book ID
118463961
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
52 KB
Volume
4
Category
Article
ISSN
1552-5260

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A novel mutation in the VCP gene (G157R)
A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia
✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

## Abstract 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 fam