Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene.
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.
Haubenberger
D
D
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Bittner
R E
RE
Rauch-Shorny
S
S
Zimprich
F
F
Mannhalter
C
C
Wagner
L
L
Mineva
I
I
Vass
K
K
Auff
E
E
Zimprich
A
A
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
D018797:Cell Cycle Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein