Article
A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc - 1 Jul 2023
Chimenes Natielly D, Caramalac Silvana M, Caramalac Simone M, Fernandes Thiago D, Basso Roberta M, Cerri Fabrício M, Oliveira-Filho José P, Borges Alexandre S, Palumbo Mariana I P
Abstract excerpt
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via amplification of the 23 exons encoding CLCN1. After sequencing the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.