title: Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
abstract: BACKGROUND
  The distribution of documented cases of Charcot-Marie-Tooth disease type 4C (CMT4C) is mainly limited to the Mediterranean region. We report the first documented case of CMT4C in East Asia. Furthermore, we estimate the proportion of CMT4C in Japan and compare the same with that in European countries.
  
  
  METHODS
  A 72-year-old Japanese woman presented with early-onset motor and sensory neuropathy associated with scoliosis, deformities of the hands and feet, and carpal tunnel syndrome. A genetic screen detected a homozygous p.R529Q mutation in SH3TC2, the causative gene of CMT4C. The SH3TC2 mutation identified here is unique among 426 unrelated Japanese CMT patients, excluding those with CMT1A.
  
  
  CONCLUSIONS
  Although CMT4C also occurs in Japan, it is less common than in European countries.
authors.affiliation: Department of Neurology, Tokyo Women's Medical University School of Medicine, Kawada-cho 8-1, Shinjuku-ku, Tokyo, Japan. miguchi-twmu@umin.ac.jp
authors.forename: Masahiro
authors.initials: M
authors.lastname: Iguchi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ito
authors.forename: Kunio
authors.initials: K
authors.lastname: Toda
authors.forename: Mari
authors.initials: M
authors.lastname: Urano
authors.forename: Yuko
authors.initials: Y
authors.lastname: Shimizu
authors.forename: Chisen
authors.initials: C
authors.lastname: Takeuchi
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Uchiyama
mesh_terms: D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human