title: A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
abstract: A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia.
authors.affiliation: Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands. I.D.Wijnberg@uu.nl
authors.forename: Inge D
authors.initials: ID
authors.lastname: Wijnberg
authors.forename: Marta
authors.initials: M
authors.lastname: Owczarek-Lipska
authors.forename: Roberta
authors.initials: R
authors.lastname: Sacchetto
authors.forename: Francesco
authors.initials: F
authors.lastname: Mascarello
authors.forename: Francesco
authors.initials: F
authors.lastname: Pascoli
authors.forename: Walter
authors.initials: W
authors.lastname: Grünberg
authors.forename: Johannes H
authors.initials: JH
authors.lastname: van der Kolk
authors.forename: Cord
authors.initials: C
authors.lastname: Drögemüller
mesh_terms: D000818:Animals; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D006734:Horse Diseases / Q000175:diagnosis* / Q000235:genetics*; D006736:Horses; D018482:Muscle, Skeletal / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D018118:Chloride Channels