Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
van der Zee, J × Pirici, D Van Langenhove, T Engelborghs, S Vandenberghe, Rik Hoffmann, M Pusswald, G Van den Broeck, M Peeters, K Mattheijssens, M Martin, J-J De Deyn, P P Cruts, M Haubenberger, D Kumar-Singh, S Zimprich, A Van Broeckhoven, C #
Advanstar Communications Lippincott williams & wilkins
Neurology vol:73 issue:8 pages:626-632
Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multisystem disorder of frontotemporal lobar degeneration (FTLD), inclusion body myopathy (IBM), and Paget disease of bone (PDB), referred to as IBMPFD.