['Charcot-Marie-Tooth (CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3-q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region in 2 American families. We have reexamined 1 of the original families (US-PED2) by next generation sequencing.', 'Three members of the family underwent exome sequencing. Candidate variants were validated by PCR and Sanger sequencing analysis.'] Does re-analysis of an original CMTX3 family using exome sequencing identify a known BSCL2 mutation?