Charcot–Marie–Tooth disease (CMT) encompasses a group of inherited motor and sensory neuropathies. Over the past two decades, considerable advances have been made in identification of the causative genes. Here, Rossor et al. outline the role of next-generation sequencing in enabling rapid, parallel screening of multiple CMT-associated genes, and propose a diagnostic algorithm for application of genetic screening when CMT is suspected.
- Alexander M. Rossor
- James M. Polke
- Mary M. Reilly