A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

作者：Wijnberg Inge D^*; Owczarek Lipska Marta; Sacchetto Roberta; Mascarello Francesco; Pascoli Francesco; Gruenberg Walter; van der Kolk Johannes H; Droegemueller Cord

来源：Neuromuscular Disorders, 2012, 22(4): 361-367.

DOI：10.1016/j.nmd.2011.10.001

• Muscle spasm
• Myotonic discharges
• Electromyography
• Becker
• Thomsen
• CLCN1
• Horse

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%26gt;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.

• 出版日期2012-4