Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Conclusions:
In the absence of a phenotypic correlation with specific GJB1 mutations, sex-specific distinctions and clinically relevant attributes need to be incorporated into the measurements for clinical trials in people with CMTX1.

ClinicalTrials.gov identifier:
NCT01193075.

Source: Neurology - August 28, 2017 Category: Neurology Authors: Panosyan, F. B., Laura, M., Rossor, A. M., Pisciotta, C., Piscosquito, G., Burns, J., Li, J., Yum, S. W., Lewis, R. A., Day, J., Horvath, R., Herrmann, D. N., Shy, M. E., Pareyson, D., Reilly, M. M., Scherer, S. S., For the Inherited Neuropathies Consorti Tags: All Neuromuscular Disease, Peripheral neuropathy, EMG, Association studies in genetics ARTICLE Source Type: research