title: Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
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.
authors.affiliation: Department of Neurology, Medical University of Vienna, Vienna, Austria.
authors.forename: D
authors.initials: D
authors.lastname: Haubenberger
authors.forename: R E
authors.initials: RE
authors.lastname: Bittner
authors.forename: S
authors.initials: S
authors.lastname: Rauch-Shorny
authors.forename: F
authors.initials: F
authors.lastname: Zimprich
authors.forename: C
authors.initials: C
authors.lastname: Mannhalter
authors.forename: L
authors.initials: L
authors.lastname: Wagner
authors.forename: I
authors.initials: I
authors.lastname: Mineva
authors.forename: K
authors.initials: K
authors.lastname: Vass
authors.forename: E
authors.initials: E
authors.lastname: Auff
authors.forename: A
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000251:Adenosine Triphosphatases; D000368:Aged; D001317:Austria; D001416:Back Pain / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001706:Biopsy; D001842:Bone and Bones / Q000473:pathology / Q000503:physiopathology; D018797:Cell Cycle Proteins / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics; D018979:Myositis, Inclusion Body / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010001:Osteitis Deformans / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013577:Syndrome; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein