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Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

✍ Scribed by Kishore R. Kumar; Merrilee Needham; Kym Mina; Mark Davis; Janice Brewer; Christopher Staples; Karl Ng; Carolyn M. Sue; Frank L. Mastaglia

Book ID: 116794383
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 352 KB
Volume: 20
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2010.03.002

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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