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Results 1 - 2 of 2 for CLCN1
  1. Myotonia congenita 
    ... 1 in 10,000 people. Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that ... muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow ...
    https://medlineplus.gov/genetics/condition/myotonia-congenita - Genetics
  2. Potassium-aggravated myotonia 
    ... causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA. Acta Myol. 2011 ...
    https://medlineplus.gov/.../condition/potassium-aggravated-myotonia - Genetics