A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.

Abstract excerpt

Mutations in valosin-containing protein (VCP) are associated with a syndromic constellation of inclusion body myositis, Paget's disease of bone and frontotemporal dementia. Here we describe the case reports of two patients with a novel variation (p.I27V) in the VCP gene that was not identified in a healthy control population. One patient presented with a frontotemporal dementia syndrome associated with raised...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine Triphosphatases
• Share to Aged