AUTHOR=Eguchi Gabriel Utida , Palumbo Mariana Isa Poci , Cerri Fabrício Moreira , Basso Roberta Martins , Oliveira-Filho José Paes de , Caramalac Silvana Marques , Borges Alexandre Secorun 

TITLE=Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia

JOURNAL=Frontiers in Veterinary Science

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/veterinary-science/articles/10.3389/fvets.2024.1485454

DOI=10.3389/fvets.2024.1485454

ISSN=2297-1769

ABSTRACT=At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation. Hereditary myotonia was suspected, and electromyography confirmed the presence of myotonic potentials. Genetic testing of the myotonic patient identified a complex of mutations, including c.[1636_1639 delins AACGGG] and c.[1644 A>T], both located in exon 15 of the CLCN1 gene leading to the formation of a premature stop codon. Genetic investigations of the mother and four littermates revealed that, except for one littermate who was wild type, all others carried a copy of the mutated gene. To the best of the authors' knowledge, these mutations have not been previously reported.