Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
โ Scribed by Anna Bersano; Roberto Del Bo; Costanza Lamperti; Serena Ghezzi; Gigliola Fagiolari; Francesco Fortunato; Elena Ballabio; Maurizio Moggio; Livia Candelise; Daniela Galimberti; Roberta Virgilio; Silvia Lanfranconi; Yvan Torrente; Marinella Carpo; Nereo Bresolin; Giacomo P. Comi; Stefania Corti
- Book ID
- 116781200
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 943 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0197-4580
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๐ SIMILAR VOLUMES
## Abstract Mutations in the valosinโcontaining protein (__VCP__) are known to cause autosomalโdominant inclusionโbody myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the Nโterminal region of the __VCP__ gene in a German fam