Peer-reviewed veterinary case report
Hereditary myotonia muscle stiffness in a mixed-breed dog
By Chimenes, Natielly D et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2023·Faculty of Veterinary Medicine and Animal Science, Brazil·View original on PubMed →
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Original publication title: A complexvariant associated with hereditary myotonia in a mixed-breed dog.
- Species:
- dog
Plain-English summary
A mixed-breed dog was diagnosed with hereditary myotonia, a condition that causes delayed muscle relaxation after exercise. This dog showed signs of muscle stiffness and difficulty moving normally. Genetic testing revealed a specific mutation that caused the condition. Understanding this genetic change can help veterinarians better manage and treat dogs with similar issues in the future.
People also search for: dog muscle stiffness · hereditary myotonia in dogs · mixed-breed dog muscle problems
Abstract
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in thegene. We describe here a complexvariant 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. After sequencing thegene, a complex variant was found in exon 6 c.[705T>G; 708del; 712_732del], resulting in a premature stop codon in exon 7 and a protein that was 717 amino acids shorter than the normal CLC protein. The myotonic dog was identified as homozygous recessive for the complexvariant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of themutations responsible for the development of hereditary myotonia allows greater clarification of this condition.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37212506/