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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

✍ Scribed by Watts, Giles D J; Wymer, Jill; Kovach, Margaret J; Mehta, Sarju G; Mumm, Steven; Darvish, Daniel; Pestronk, Alan; Whyte, Michael P; Kimonis, Virginia E

Book ID: 109918983
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 708 KB
Volume: 36
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1332

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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