Clinical Phenotype and Genotype in X-linked Dominant Charcot-Marie-Tooth Disease (CMTX 1)

  • Nukazawa Tatsushi
    Department of Neurology and Psychiatry, Kanagawa Rehabilitation Hospital
  • Saito Toyokazu
    Department of Internal Medicine, Kitasato University School of Medicine
  • Yoshimura Takeo
    Department of Neurology, Neurological Institute, Faculty of Medicine Kyushu University

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  • X連鎖優性Charcot-Marie-Tooth病(CMTX 1)における臨床表現型と遺伝子型

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We studied a family with X-linked dominant Charcot-Marie-Tooth disease (CMTX 1) that affected 1 male and 3 females. Baseed on the clinical findings, it was not always accompanied by peroneal muscular atrophy. A deformity of the feet such as pes cavus and hammer toe was conspicuous. From the electrophysiological examination, nerve conduction velocities showed a moderate slowing and undetected with progression. A sural nerve biopsy showed the loss of large myelinated nerve fibers, but did not show a clear demylination or the characteristics of axonal degeneration. In the female patients, one had nearly no symptoms but the others were seriously involved. The sequence analysis of the genomic DNA encoding connexin 32 obtained using the polymerase chain reaction revealed a point mutation, Trp132 (GGT)→stop codon (AGT), The male patient was hemizygote, and the female patients were heterozygotes. The female patients had a milder phenotype than the male patient, and there was a difference in the expressivity among each other. It is necessary that we determine which gene expression process produces it.

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