A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
Journal of the Peripheral Nervous System, 07/16/2012
Rossor AM et al. – The case highlights the artificial distinction between patients with motor predominant forms of Charcot–Marie–Tooth disease (CMT2) and distal hereditary motor neuropathy (dHMN) and argues against the hypothesis that mutations in the C–terminus have no sensory involvement.
