Clinical heterogeneity in 3 unrelated families linked to <i>VCP</i> p.Arg159His

Abstract excerpt

BACKGROUND: 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. METHODS: We used exon-based genomic DNA sequencing to test for VCP mutations in 123 unrelated Belgian patients with FTLD and...

Topics

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

• Share to Amyotrophic Lateral Sclerosis Research
• Share to Endoplasmic Reticulum Stress and Disease
• Share to Hereditary Neurological Disorders