Inactivation of muscle chloride channel by transposon insertion in myotonic mice

• Published in: Nature (London) Vol. 354; no. 6351; pp. 304 - 308
• Main Authors: Steinmeyer, Klaus, Klocke, Rainer, Ortland, Christoph, Gronemeier, Monika, Jockusch, Harald, GrÜnder, Stefan, Jentsch, Thomas J
• Format: Journal Article
• Language: English
• Published: London Nature Publishing 28.11.1991; Nature Publishing Group
• Subjects: Amino Acid Sequence; Animal models; Animals; Base Sequence; Biological and medical sciences; Blotting, Northern; Blotting, Southern; Chloride Channels; Chlorides - physiology; Chromosome Mapping; Cloning, Molecular; Disease; DNA - genetics; DNA Transposable Elements; Dystrophy; Gene Expression; genes; Inactivation; Medical research; Medical sciences; Membrane Proteins - physiology; Mice; Mice, Mutant Strains; Molecular Sequence Data; Muscles; Muscular system; myotonia; Myotonia - genetics; Nervous system involvement in other diseases. Miscellaneous; Neurology; RNA Splicing; RNA, Messenger - genetics; transposons; Animal model; Nervous system diseases; Chlorine; Myotonia; Pathogenesis; Transposon; Rodentia; Ionic channel; Striated muscle; Striated muscle disease; Vertebrata; Mammalia; Mouse; Animal; Genetics; Molecular biology

MYOTONIA (stiffness and impaired relaxation of skeletal muscle) is a symptom of several diseases caused by repetitive firing of action potentials in muscle membranes. Purely myotonic human diseases are dominant myotonia congenita (Thomsen) and recessive generalized myotonia (Becker), whereas myotoni...