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Letter

Nature Genetics 36, 377–381 (1 April 2004) | doi:10.1038/ng1332

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

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

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21.1–p12. We investigated 13 families with IBMPFD linked to chromosome 9 using a candidate-gene approach.