Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene
2005; Lippincott Williams & Wilkins; Volume: 65; Issue: 8 Linguagem: Inglês
10.1212/01.wnl.0000180407.15369.92
ISSN1526-632X
AutoresDietrich Haubenberger, Reginald E. Bittner, Sigrid Rauch-Shorny, Fritz Zimprich, Christine Mannhalter, Ludwig Wagner, Ivelina Mineva, K. Vass, Eduard Auff, Alexander Zimprich,
Tópico(s)Autophagy in Disease and Therapy
ResumoMutations 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.
Referência(s)