Patient Selection of Additional Study
To investigate whether MME mutations cause CMT and to investigate the frequency of patients with MME mutations, we further performed targeted resequencing using next‐generation sequencing (NGS) in a 137 second case series between May 2012 and June 2014 and a 217 third case series of unrelated Japanese patients with CMT between July 2014 and March 2015 (Fig 2).
Figure 2  Flow chart for genetic tests in the additional patients. During the second and third case series, we identified 1 and 4 patients with mutations in the MME gene.

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