Article
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.
Neuromuscular disorders : NMD - 1 Nov 2009
Vesa Jouni, Su Hailing, Watts Giles D, Krause Sabine, Walter Maggie C, Martin Barbara, Smith Charles, Wallace Douglas C, Kimonis Virginia E
Abstract excerpt
Inclusion body myopathy associated with Paget's disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin containing protein (VCP) gene. The disease is associated with progressive proximal muscle weakness, inclusions and vacuoles in muscle fibers, malfunction in the bone remodeling process resulting in Paget's disease, and premature frontotemporal dementia. VCP is involved in several...
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