COMPARATIVE STUDY
JOURNAL ARTICLE

The skeletal muscle chloride channel in dominant and recessive human myotonia

M C Koch, K Steinmeyer, C Lorenz, K Ricker, F Wolf, M Otto, B Zoll, F Lehmann-Horn, K H Grzeschik, T J Jentsch
Science 1992 August 7, 257 (5071): 797-800
1379744
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (CLC-1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor beta (TCRB) locus. Tight linkage of these two loci to GM and MC was found in German families. An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8. This suggests that different mutations in CLC-1 may cause dominant or recessive myotonia.

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