Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.

@article{Takashima2003GapJP,
  title={Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.},
  author={Hiroshi Takashima and Masanori Nakagawa and Fujio Umehara and Koichi Hirata and Masahito Suehara and Hisanori Mayumi and K Yoshishige and Wataru Matsuyama and Masaaki Saito and Manabu Jonosono and Kimiyoshi Arimura and Mitsuhiro Osame},
  journal={Acta neurologica Scandinavica},
  year={2003},
  volume={107 1},
  pages={31-7}
}
OBJECTIVES To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. MATERIAL AND METHODS We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with… CONTINUE READING