Milley, György; Varga, Edina Tímea; Grosz, Zoltán; Bereznai, Benjamin; Arányi, Zuzsanna; Boczan, J; Dioszeghy, P; Kalman, B; Gál, Anikó; Molnár, Mária Judit
(2016)
Pathogenic variants of the gap junction beta 1 (GJB1) gene are responsible for the Charcot-Marie-Tooth neuropathy X type 1 (CMTX1). In this study, we report the mutation frequency of GJB1 in 210 Hungarian CMT patients and ...