Koch MC et al., 1992
Koch MC, Steinmeyer K, Ricker K, et al: Tight linkage of recessive and d ominant forms of human myotonia to skeletal muscle chloride channel gene. Science 257:797,1992. This details the discovery of a genetic mutation in Ike chloride channel gene linked to Thomsen and Becker myotonia (myotonia congenita) in humans.
