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    Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

    The objective of the study was to investigate the disease-causing mutation in an autosomal dominant Charcot-Marie-Tooth disease type 2 family and examine the clinical and histopathological evaluation. We enrol...

    B.-O. Choi, M.-H. Park, K. W. Chung, H.-M. Woo, H. Koo, H.-K. Chung… in neurogenetics (2013)