Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
D Haubenberger, RE Bittner, S Rauch-Shorny… - Neurology, 2005 - AAN Enterprises
Neurology, 2005•AAN Enterprises
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently
found to be associated with hereditary inclusion body myopathy, Paget disease of the bone,
and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP
gene (R159H; 688G> A) segregating with this disease in an Austrian family of four affected
siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but
without clinical signs of dementia.
found to be associated with hereditary inclusion body myopathy, Paget disease of the bone,
and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP
gene (R159H; 688G> A) segregating with this disease in an Austrian family of four affected
siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but
without clinical signs of dementia.
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.
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