Footnotes

• Contributors MES was project co-leader, drafted and edited the manuscript and analysis of data. APR performed sequencing analysis and participated in manuscript preparation. SMEF performed clinical coordination of patient visits, sample collection and in manuscript preparation. LAA participated in clinical coordination of patient samples. FT participated in the genetic analysis of the sequencing studies and segregation. AS performed the EMG studies. CB coordinated sample shipping and clinical data and in manuscriptt preparation. SZ was project co-leader, participated in manuscript preparation and analysis of data.

• Funding This study was supported in part by the Inherited Neuropathy Consortium - Rare Disease Clinical Research On Consortium (INC RDCRC - U54NS065712),NINDS/ORDR, NCATS, the Muscular Dystrophy Association (MDA), the Charcot Marie Tooth Association (CMTA) and NINDS R01NS075764 (SZ and MES).

• Competing interests None declared.

• Ethics approval Institutional Review Board.

• Provenance and peer review Not commissioned; externally peer reviewed.

• Data sharing statement We are willing to share all data in a de-identified fashion that are included in our study.