Objective: To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.
Methods: Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.
Results: Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband. The mother and father of the proband were found to harbor the c.937G>A and c.1205C>T mutation, respectively, whilst neither mutation was found in her brother.
Conclusion: The novel missense CLCN1 mutations probably underlie the disease in this family. These have enriched the spectrum of CLCN1 mutations and may facilitate further research on this disorder.