A novel mutation in the FGD4 gene causing Charcot ‐Marie‐Tooth disease

We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.

Source: Journal of the Peripheral Nervous System - May 24, 2017 Category: Neurology Authors: Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou Tags: CASE REPORT Source Type: research