Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the
skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's
myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised
by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations in
the muscle chloride channel gene, CLCN1. At least 50 different CLCN1 mutations have
been described worldwide, but in many studies only about half of the patients showed …

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
- PMC … Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern
Scandinavia … One of the mutations described in this paper was named incorrectly. The
nucleotide and protein codes are correct, but the coordinate is wrong. The corrected Figure
2a is shown below. …