Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

ABSTRACT: Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020. Episodes were associated with a short period of tetanic spasms and a stiff gait upon rising. Lambs were otherwise normal between episodes, although over time, lost body condition and occasionally died from misadventure. An inherited condition was considered from limited pedigree information and a preliminary

SUBMITTER: Manning LK 

PROVIDER: S-EPMC11672719 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature