Heat shock protein b3 (HSPB3) as an underlying cause of late-onset axonal Charcot-Marie-Tooth disease

Abstract

Background: The HSPB3 gene encodes a small heat-shock protein 27-like protein which is highly homologous with the HSP27 (HSPB1). Mutation in the HSPB3 was once reported to be the underlying cause of adult-onset distal hereditary motor neuropathy type 2C in 2010. There has been no report of pathogenic mutations in the HSPB3.