Gene dosage effects in hereditary peripheral neuropathy

@article{Gabriel1997GeneDE,
  title={Gene dosage effects in hereditary peripheral neuropathy},
  author={J. Gabriel and B. Erne and D. Pareyson and A. Sghirlanzoni and F. Taroni and A. Steck},
  journal={Neurology},
  year={1997},
  volume={49},
  pages={1635 - 1640}
}
  • J. Gabriel, B. Erne, +3 authors A. Steck
  • Published 1997
  • Medicine
  • Neurology
    • A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in Charcot-Marie-Tooth disease type 1A (CMT1A), whereas the reciprocal deletion is associated with hereditary neuropathy with liability to pressure palsies(HNPP). Since most CMT1A patients harbor three copies of the PMP22 gene, and most HNPP patients carry only a single copy, a gene dosage effect has been proposed as a mechanism for both diseases… CONTINUE READING
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    58 Citations
    Background Citations
    8
    Methods Citations
    1
    Results Citations
    2
    58 Citations
    Citation Type

    Citation Type

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    Normal expression of myelin protein zero with frame‐shift mutation correlates with mild phenotype
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    PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
    • 94
    Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory‐Motor Neuropathies: 12 cases
    • 3
    Clinical features and molecular genetics of hereditary peripheral neuropathies
    • 64
    Development of early postnatal peripheral nerve abnormalities in Trembler‐J and PMP22 transgenic mice
    • 41
    • PDF

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