A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.

@article{Nagamitsu2000AV,
  title={A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.},
  author={Shinichiro Nagamitsu and Tohru Matsuura and Mehrdad Khajavi and Rebecca Armstrong and Clifton Gooch and Yadollah Harati and Tetsuo Ashizawa},
  journal={Neurology},
  year={2000},
  volume={55 11},
  pages={1697-703}
}
OBJECTIVES To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy. BACKGROUND The authors encountered a unique myotonic disorder of early onset in a 37-year-old man and his 47-year-old sister. METHODS After examining known loci of inherited myotonic disorders, the authors looked for mutations within the CLCN1 gene using single strand conformation polymorphism and direct sequencing. To investigate the disease mechanism… CONTINUE READING

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