Figure 1: Results of electrophysiological tests on patient with recessive myotonia congenita. All 23 exons and intron–exon junctions of the gene encoding skeletal muscle chloride channel type 1 ...

Myotonia congenita is a disorder that affects muscles used for movement. Beginning in childhood people with this condition experience bouts of sustained muscle tensing (myotonia) that prevents ...

Dystrophic myotonia (DM) is a type of muscular dystrophy that causes muscle ... There is also a condition called paramyotonia congenita which appears before the age of 10. The rarity of this ...