Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

@article{Bai2006EffectOA,
  title={Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.},
  author={Yunhong Bai and Emilia Ianokova and Qin Pu and Khaled Ghandour and Rock Levinson and Jean-Jacques Martin and Chantal Ceuterick-de Groote and Radim Mazanec and Pavel Seeman and Michael E. Shy and Jun Li},
  journal={Archives of neurology},
  year={2006},
  volume={63 12},
  pages={
          1787-94
        }
}
BACKGROUND Most mutations in the myelin protein zero gene (MPZ) typically cause a severe demyelinating/dysmyelinating neuropathy that begins in infancy or an adult-onset axonal neuropathy. Axonal degeneration in the late-onset H10P mutation may be caused by the disruption of axoglial interaction. OBJECTIVE To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B caused by an arg69-to-cys (R69C) mutation. DESIGN AND PARTICIPANTS Biopsies of… CONTINUE READING
BETA

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Divergentni fenotypy choroby Charcot - Marie - Tooth : demyelinizacni s infantilnim zacatkem a axonalni s pozdnim zacat - kem a zpomalenou fotoreakci nasledkem ruznych mutaci myelin protein zero

  • P Seeman, R Mazabenc, O Horacek
  • Ceská a Slovenská Neurol Neurochirurg
  • 2004

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