Article
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Journal of the neurological sciences - 15 Sept 2016
Abrahao Agessandro, Abath Neto Osório, Kok Fernando, Zanoteli Edmar, Santos Bibiana, Pinto Wladimir Bocca Vieira de Rezende, Barsottini Orlando Graziani Povoas, Oliveira Acary Souza Bulle, Pedroso José Luiz
Abstract excerpt
BACKGROUND: VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and familial amyotrophic lateral sclerosis (ALS) type 14. The combination of IBM, PDB (IBMPFD1) can presented in one individual. However, the association of IBMPFD1 and ALS in...
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