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Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)

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Abstract

We evaluated the correlation between clinical signs, electrophysiological data and molecular genetics findings in patients with HMSN 1. We found a duplication in the PMP-22 gene in 60% of HMSN 1 families. We compared clinical and electrophysiological data between 23 patients with duplication and 18 patients without duplication. No statistically significant differences in age of onset of symptoms, clinical signs and electrophysiological parameters were found.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Laboratory for Molecular Genetics, Division of Medical Genetics, Šlajmerjeva 3, SI-61000, Ljubljana, Slovenia

    L. Leonardis & B. Peterlin

  2. Institute of Clinical Neurophysiology, Medical Centre Ljubljana, Slovenia

    L. Leonardis, J. Zidar & J. Trontelj

Authors
  1. L. Leonardis
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  2. J. Zidar
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  3. J. Trontelj
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  4. B. Peterlin
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Leonardis, L., Zidar, J., Trontelj, J. et al. Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I). Pflugers Arch. 431 (Suppl 6), R195–R196 (1996). https://doi.org/10.1007/BF02346335

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  • DOI: https://doi.org/10.1007/BF02346335

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