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CLCN1
Did you mean clcn2?
- The CLCN1 gene provides instructions for making a type of protein called a chloride channel. These channels, which transport negatively charged chlorine ...
- ... 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 ...
- ... causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA. Acta Myol. 2011 ...