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  • Title: Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
    Author: Kurihara S, Adachi Y, Imai C, Araki H, Hattori N, Numakura C, Lin Y, Hayasaka K, Sobue G, Nakashima K.
    Journal: J Neurol Neurosurg Psychiatry; 2004 Oct; 75(10):1492-4. PubMed ID: 15377707.
    Abstract:
    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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