The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease
European Journal of Neurology2015Vol. 22(12), pp. 1548–1555
Citations Over TimeTop 24% of 2015 papers
Teresa Sevilla, Rafael Sivera, Dolores Martínez‐Rubio, Vincenzo Lupo, María José Chumillas, Eduardo Calpena, Joaquı́n Dopazo, Juan J. Vílchez, Francesc Palau, Carmen Espinós
Abstract
This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.
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