Founder mutations and the high prevalence of myotonia congenita in northern Finland

@article{Papponen1999FounderMA,
  title={Founder mutations and the high prevalence of myotonia congenita in northern Finland},
  author={Hinni Papponen and Teemu Toppinen and Peter Baumann and Vilho V. Myllyl{\"a} and Jaakko Leisti and Helena Kuivaniemi and Gerard Tromp and Raili Myllylä},
  journal={Neurology},
  year={1999},
  volume={53},
  pages={297 - 297}
}
Objective and Background: To find an explanation at the molecular level for the high prevalence of myotonia congenita in northern Finland and the exceptional pattern of inheritance of the disease in many families, and to study genotype-phenotype correlation in the patients. Methods: Forty-six patients with myotonia congenita and 16 unaffected relatives from 24 families were studied. All 23 exons and their flanking regions of the gene for the chloride channel protein (ClC-1) were sequenced from… 
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