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The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

✍ Scribed by Angèle Nalbandian; Sandra Donkervoort; Eric Dec; Mallikarjun Badadani; Veeral Katheria; Prachi Rana; Christopher Nguyen; Jogeshwar Mukherjee; Vincent Caiozzo; Barbara Martin; Giles D. Watts; Jouni Vesa; Charles Smith; Virginia E. Kimonis

Book ID: 107575559
Publisher: Humana Press Inc
Year: 2011
Tongue: English
Weight: 402 KB
Volume: 45
Category: Article
ISSN: 0895-8696
DOI: 10.1007/s12031-011-9627-y

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## 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