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Charcot-marie-tooth disease type 4C in Japan: Report of a case
Muscle & Nerve, 08/08/2012
Iguchi M et al. – 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 Charcot–Marie–Tooth disease type 4C (CMT4C). The SH3TC2 mutation identified here is unique among 426 unrelated Japanese CMT patients, excluding those with CMT1A. Discussion: Although CMT4C also occurs in Japan, it is less common than in European countries.