Article
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Clinical genetics - 1 Nov 2007
Watts G D J, Thomasova D, Ramdeen S K, Fulchiero E C, Mehta S G, Drachman D A, Weihl C C, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis V E
Abstract excerpt
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been attributed to eight missense mutations in valosin-containing protein (VCP). We report novel VCP mutations N387H and L198W in six individuals from two families who presented with proximal muscle weakness at a mean age of diagnosis of 40 years, most losing the ability to walk within a...
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