A novel mutation in the valosin-containing-protein gene found in a Spanish family

Valosin-containing protein (VCP) is a ubiquitous protein, being broadly expressed in several human body systems [1]. More than 45 missense mutations in the VCP gene have been associated with several disease conditions, collectively known as ‘multisystem proteinopathies’: these include early-onset Paget disease of the bone (PDB), myopathy with rimmed vacuoles or inclusion body myopathy (IBM), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS) [2, 3].. Myopathy is the most common clinical feature of these conditio ns, mainly affecting proximal muscles.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research