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Radiological features of Paget disease of bone associated with VCP myopathy

✍ Scribed by Farzin Farpour; Jamshid Tehranzadeh; Sandra Donkervoort; Charles Smith; Barbara Martin; Pari Vanjara; Kathryn Osann; Virginia E. Kimonis

Publisher
Springer
Year
2011
Tongue
English
Weight
319 KB
Volume
41
Category
Article
ISSN
0364-2348

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πŸ“œ SIMILAR VOLUMES

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 πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 115 KB πŸ‘ 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