Abstract
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.
MeSH terms
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Adenosine Triphosphatases
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Aged
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Austria
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Back Pain / genetics
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Back Pain / pathology
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Back Pain / physiopathology
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Biopsy
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Bone and Bones / pathology
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Bone and Bones / physiopathology
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Cell Cycle Proteins / genetics*
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Chromosomes, Human, Pair 9 / genetics
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DNA Mutational Analysis
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Diabetes Mellitus, Type 1 / complications
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Male
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Middle Aged
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Muscle Weakness / genetics
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Muscle Weakness / pathology
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Muscle Weakness / physiopathology
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Mutation, Missense / genetics
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Myositis, Inclusion Body / complications*
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / physiopathology
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Osteitis Deformans / complications*
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Osteitis Deformans / genetics*
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Osteitis Deformans / physiopathology
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Pedigree
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Syndrome
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Valosin Containing Protein
Substances
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Cell Cycle Proteins
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Adenosine Triphosphatases
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VCP protein, human
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Valosin Containing Protein