Article
Novel valosin-containing protein mutations associated with multisystem proteinopathy.
Neuromuscular disorders : NMD - 1 Jun 2018
Al-Tahan Sejad, Al-Obeidi Ebaa, Yoshioka Hiroshi, Lakatos Anita, Weiss Lan, Grafe Marjorie, Palmio Johanna, Wicklund Matt, Harati Yadollah, Omizo Molly, Udd Bjarne, Kimonis Virginia
Abstract excerpt
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four...
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