The skeletal muscle chloride channel in dominant and recessive human myotonia

Item Type:	Article
Title:	The skeletal muscle chloride channel in dominant and recessive human myotonia
Creators Name:	Koch, M.C. and Steinmeyer, K. and Lorenz, C. and Ricker, K. and Wolf, F. and Otto, M. and Zoll, B. and Lehmann-Horn, F. and Grzeschik, K.H. and Jentsch, T.J.
Abstract:	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.
Keywords:	Amino Acid Sequence, Southern Blotting, Chloride Channels, Human Chromosomes Pair 7, Molecular Cloning, DNA, Genes, Ion Channels, Linkage (Genetics), Lod Score, Membrane Proteins, Molecular Sequence Data, Muscular Dystrophies, Myotonia Congenita, Pedigree, Restriction Fragment Length Polymorphism, T-Cell Antigen Receptors, Genetic Recombination, Nucleic Acid Sequence Homology, Animals
Source:	Science
ISSN:	0036-8075
Publisher:	American Association for the Advancement of Science
Volume:	257
Number:	5071
Page Range:	797-800
Date:	7 August 1992
Official Publication:	http://www.jstor.org/stable/2877674
PubMed:	View item in PubMed

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