A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog

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Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorUniversidade Federal de Mato Grosso do Sul (UFMS)-
Autor(es): dc.contributorUniv Fed Mato Grosso-
Autor(es): dc.creatorChimenes, Natielly D. D.-
Autor(es): dc.creatorCaramalac, Silvana M. M.-
Autor(es): dc.creatorCaramalac, Simone M. M.-
Autor(es): dc.creatorFernandes, Thiago D. D.-
Autor(es): dc.creatorBasso, Roberta M. M.-
Autor(es): dc.creatorCerri, Fabricio M.-
Autor(es): dc.creatorOliveira-Filho, Jose P.-
Autor(es): dc.creatorBorges, Alexandre S. S.-
Autor(es): dc.creatorPalumbo, Mariana I. P.-
Data de aceite: dc.date.accessioned2025-08-21T19:05:50Z-
Data de disponibilização: dc.date.available2025-08-21T19:05:50Z-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-05-22-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1177/10406387231176736-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/245657-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/245657-
Descrição: dc.descriptionHereditary 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 CLCN1 gene, 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 complex CLCN1 variant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of the CLCN1 mutations responsible for the development of hereditary myotonia allows greater clarification of this condition.-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Cient�fico e Tecnol�gico (CNPq)-
Descrição: dc.descriptionSao Paulo State Univ Unesp, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil-
Descrição: dc.descriptionFed Univ Mato Grosso UFMS, Fac Vet Med & Anim Sci, Campo Grande, MS, Brazil-
Descrição: dc.descriptionUniv Fed Mato Grosso, Fac Vet Med & Anim Sci, Senador Filinto Muller 2443, BR-79070900 Campo Grande, MS, Brazil-
Descrição: dc.descriptionSao Paulo State Univ Unesp, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil-
Formato: dc.format4-
Idioma: dc.languageen-
Publicador: dc.publisherSage Publications Inc-
Relação: dc.relationJournal Of Veterinary Diagnostic Investigation-
???dc.source???: dc.sourceWeb of Science-
Palavras-chave: dc.subjectchloride channel-
Palavras-chave: dc.subjectdogs-
Palavras-chave: dc.subjectelectromyography-
Palavras-chave: dc.subjectgenetic analyses-
Palavras-chave: dc.subjecthereditary-
Palavras-chave: dc.subjectmyopathy-
Título: dc.titleA complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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