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
Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation / Leonardi, Luca; Garibaldi, Matteo; Fionda, Laura; Vanoli, Fiammetta; Loreti, Simona; Morino, Stefania; Antonini, Giovanni. - In: CLINICAL NEUROPHYSIOLOGY. - ISSN 1388-2457. - 130:1(2018), pp. 93-94. [10.1016/j.clinph.2018.11.007]
Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation
Leonardi, Luca;Garibaldi, Matteo;Fionda, Laura;Vanoli, Fiammetta;Morino, Stefania;Antonini, Giovanni
2018
Abstract
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 detectedFile allegati a questo prodotto
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