Article
Characterization of the Asian myopathy patients with VCP mutations.
European journal of neurology - 1 Mar 2012
Shi Z, Hayashi Y K, Mitsuhashi S, Goto K, Kaneda D, Choi Y-C, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in the valosin-containing protein (VCP) gene are known to cause inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) and familial amyotrophic lateral sclerosis (ALS). Despite an increasing number of clinical reports, only one Asian family with IBMPFD has been described. METHODS: To characterize patients with VCP mutations, we screened a total...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.