Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

@article{MeyerKleine2004MolecularAG,
  title={Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families},
  author={Christof Meyer-Kleine and M. Otto and Barbara Zoll and Manuela C. Koch},
  journal={Human Genetics},
  year={2004},
  volume={93},
  pages={707-710}
}
Eighteen German families with a history of paramyotonia congenita (PC) were characterised by genetic und mutational analysis at the SCN4A locus, which encodes the α-subunit of the adult skeletal muscle sodium channel. We concentrated our analysis primarily on these families to test the hypothesis that a predominance of one common mutation occurs in all German PC families and that this mutation arose in a common ancestor originating in the North-West of the country. The present eighteen PC… 

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