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Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

โœ 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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A novel mutation in the VCP gene (G157R)
โœ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 115 KB ๐Ÿ‘ 1 views

## Abstract Mutations in the valosinโ€containing protein (__VCP__) are known to cause autosomalโ€dominant inclusionโ€body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the Nโ€terminal region of the __VCP__ gene in a German fam