EP.108Expanding phenotype of EGR2 gene related Charcot-Marie-Tooth disease type 1D

We report two unrelated CMT1D patients seen at the Dubowitz Neuromuscular Centre in London, sharing a heterozygous dominant EGR2 variant.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: A. Silwal, A. Manzur, M. Main, R. Harrison, F. Muntoni, A. Sarkozy Source Type: research