%0 Journal Article
%T Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0009-7
%X VCP mutations were first associated with inclusion body myopathy with Paget¡¯s disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot¨CMarie¨CTooth disease. Now, a new name, ¡°multisystem proteinopathy (MSP)¡±, is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP: c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val)
%U https://www.nature.com/articles/s41439-018-0009-7