Acta neurologica Scandinavica
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Acta Neurol. Scand. · May 2006
Case ReportsNovel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
Myotonia congenita (MC), caused by mutations in the muscle chloride channel (CLCN1) gene, can be inherited dominantly or recessively. The mutations at the carboxyl terminus of the CLCN1 gene have been identified in MC patients, but the functional implication of these mutations is unknown. ⋯ The data indicate that the fs793X mutant protein causes dominantly inherited MC. Because the mutation has been found in a recessive pedigree, the fs793X mutation may have a dual inheritance pattern.