Data from: Targeted next-generation sequencing panels in the diagnosis of Charcot Marie Tooth disease

Andrea Cortese, Janel Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexader Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy & Mary M. Reilly
Objective: To investigate the effectiveness of targeted NGS panels in achieving a molecular diagnosis in CMT and related disorders in a clinical setting Methods: We prospectively enrolled 220 patients from two tertiary referral centres, one in London, UK (n=120) and one in Iowa, US (n=100) in whom a targeted CMT NGS panel had been requested as a diagnostic test. PMP22 duplication/deletion was previously excluded in demyelinating cases. We reviewed the genetic and clinical data upon...
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These counts follow the COUNTER Code of Practice, meaning that Internet robots and repeats within a certain time frame are excluded.
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