title: Myotonia and muscle contractile properties in mice with SIX5 deficiency.
abstract: Myotonic dystrophy (DM1) is an autosomal-dominant multisystem disease characterized by progressive skeletal muscle weakness, myotonia, cataracts, cardiac arrhythmias, mild mental retardation, and endocrinopathies. Heterozygous loss of SIX5 in mice causes cataracts and cardiac conduction disease, and homozygous loss also leads to sterility and decreased testicular mass, reminiscent of DM1 in humans. The effect of SIX5 deficiency in muscle is unknown. In this study, we found that muscle contractile properties, electromyographic insertional activity, and muscle histology were normal in SIX5 deficient mice. The implications of these findings for the pathogenesis of DM1 are discussed.
authors.affiliation: Department of Exercise and Nutrition Sciences, School of Public Health and Health Professions, University at Buffalo, Kimball Tower Room 405, 3435 Main Street, Buffalo, New York 14214-3079, USA. kep7@buffalo.edu
authors.forename: Kirkwood E
authors.initials: KE
authors.lastname: Personius
authors.forename: Joyti
authors.initials: J
authors.lastname: Nautiyal
authors.forename: Sita
authors.initials: S
authors.lastname: Reddy
mesh_terms: D000818:Animals; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D009119:Muscle Contraction / Q000502:physiology*; D009222:Myotonia / Q000235:genetics* / Q000378:metabolism*
chemical_list: D018398:Homeodomain Proteins; C486344:Six5 protein, mouse