Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Proc Natl Acad Sci U S A
1996 Oct 01;9320:11248-52. doi: 10.1073/pnas.93.20.11248.
Show Gene links
Show Anatomy links
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Beck CL
,
Fahlke C
,
George AL
.
???displayArticle.abstract???
Certain forms of myotonia, a condition characterized by delayed relaxation of muscle secondary to sarcolemmal hyperexcitability, are caused by diminished chloride conductance in the muscle cell membrane. We have investigated the molecular basis for decreased muscle chloride conductance in the myotonic goat, an historically important animal model for the elucidation of the role of chloride in muscle excitation. A single nucleotide change causing the substitution of proline for a conserved alanine residue in the carboxyl terminus of the goat muscle chloride channel (gCIC-1) was discovered. Heterologous expression of the mutation demonstrated a substantial (+47 mV) shift in the midpoint of steady-state activation of the channel, resulting in a diminished channel open probability at voltages near the resting membrane potential of skeletal muscle. These results provide a molecular basis for the decreased chloride conductance in myotonic muscle.
Adrian,
On the repetitive discharge in myotonic muscle fibres.
1974, Pubmed
Adrian,
On the repetitive discharge in myotonic muscle fibres.
1974,
Pubmed
Aviv,
Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose.
1972,
Pubmed
Brandt,
ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.
1995,
Pubmed
,
Xenbase
Bryant,
Myotonia in the goat.
1979,
Pubmed
Fahlke,
An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels.
1995,
Pubmed
,
Xenbase
Frohman,
Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.
1988,
Pubmed
George,
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
1994,
Pubmed
George,
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
1993,
Pubmed
Gronemeier,
Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
1994,
Pubmed
Jentsch,
Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.
1990,
Pubmed
,
Xenbase
Kawasaki,
Cloning and expression of a protein kinase C-regulated chloride channel abundantly expressed in rat brain neuronal cells.
1994,
Pubmed
,
Xenbase
Koch,
The skeletal muscle chloride channel in dominant and recessive human myotonia.
1992,
Pubmed
Lipicky,
Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia.
1966,
Pubmed
Makita,
Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
1994,
Pubmed
,
Xenbase
Orita,
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
1989,
Pubmed
Pusch,
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
1995,
Pubmed
Pusch,
Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
1994,
Pubmed
,
Xenbase
Rüdel,
Membrane changes in cells from myotonia patients.
1985,
Pubmed
Steinmeyer,
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.
1991,
Pubmed
,
Xenbase
Steinmeyer,
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
1994,
Pubmed
Steinmeyer,
Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
1991,
Pubmed
Steinmeyer,
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease.
1995,
Pubmed
,
Xenbase
Streib,
AAEE minimonograph #27: differential diagnosis of myotonic syndromes.
1987,
Pubmed
Thiemann,
A chloride channel widely expressed in epithelial and non-epithelial cells.
1992,
Pubmed
,
Xenbase
Uchida,
Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla.
1993,
Pubmed
,
Xenbase
Yang,
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
1994,
Pubmed