Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

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Abstract
Although the disease is reported to be rare, there exists striking allelic heterogeneity with more than 25 known mutations in CLCN1. [2] Many patients with recessive generalized myotonia (RGM) exhibit compound heterozygosity with the inheritance of different maternal and paternal alleles. This high degree of genotype variability may help explain individual variability in disease severity. Here we report the unusual occurrence of a single family, segregating three distinct CLCN1 mutations resulting in two distinct compound genotypes in affected offspring.