J Korean Neurol Assoc. 2004 Feb;22(1):80-83. Korean. Case Report.
Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
Department of Biological Science, Kongju National University, Gongju, Korea. firstname.lastname@example.org
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.