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Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation
  1. S Kurihara,
  2. Y Adachi,
  3. C Imai,
  4. H Araki,
  5. N Hattori,
  6. C Numakura,
  7. Y Lin,
  8. K Hayasaka,
  9. G Sobue,
  10. K Nakashima

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    Background: The MPZ Thr124Met mutation is characterised by a late onset, pupillary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy.

    Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MPZ Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi.

    Results: Genotyping with DNA microsatellite markers linked to the MPZ gene on chromosome 1q22–q23 showed shared allelic characteristics between 12.65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibaragi families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family.

    Conclusions: The high frequency of this peculiar genotype in the Tottori CMT population is presumably due to a founder effect, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.

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