Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation
01 Pubblicazione su rivista
Leonardi Luca, Garibaldi Matteo, Fionda Laura, Vanoli Fiammetta, Loreti Simona, Morino Stefania, Antonini Giovanni
ISSN: 1388-2457
The Authors report a 46-year-old man who had presented, since his late thirties, a slowly progressive symmetric distal limb weakness and atrophy, associated with mild distal sensory loss. A heterozygous c.1225C > T (R409W) mutation on EGR2 gene was detected