Novel mutations in subtypes of Charcot-Marie-Tooth disease

Takeaway

  • Two previously unidentified mutations of the C1orf194 gene, p.I122N and p.K281, are associated with Charcot-Marie-Tooth disease intermediate type (DI-CMT) and demyelinating type (CMT1), respectively.

Why this matters

  • Identification of these novel mutations and their association with different CMT disease sub-types may assist in achieving accurate diagnosis and provide more direct treatment targets.