Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene

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Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorUniversidade Federal de Goiás (UFG)-
Autor(es): dc.contributorUniv Ctr UNILEAO-
Autor(es): dc.contributorCALE Anim Surg & Specialized Diagnost Lab-
Autor(es): dc.contributorUniversidade Federal de Uberlândia (UFU)-
Autor(es): dc.creatorRodrigues, Daiane de Jesus [UNESP]-
Autor(es): dc.creatorDamasceno, Adilson Donizeti-
Autor(es): dc.creatorTavares de Araujo, Cesar Erineudo-
Autor(es): dc.creatorTorelli, Sandra Regina-
Autor(es): dc.creatorHilario Fonseca, Luine Gabriela-
Autor(es): dc.creatorZanzarini Delfiol, Diego Jose-
Autor(es): dc.creatorOliveira-Filho, Jose Paes de [UNESP]-
Autor(es): dc.creatorAraujo-Junior, Joao Pessoa [UNESP]-
Autor(es): dc.creatorBorges, Alexandre Secorun [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:57:34Z-
Data de disponibilização: dc.date.available2022-02-22T00:57:34Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2020-11-30-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.nmd.2020.10.007-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/209768-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/209768-
Descrição: dc.descriptionHereditary myotonia (HM) is a genetic disorder that occurs due to mutations in the chloride channel and results in delayed relaxation of the skeletal muscles. HM has been described in 12 dog breeds, and in five of them, molecular studies of this disorder were performed and mutations in the CLCN1 gene were described. In this study, an affected American Bulldog with HM clinically characterized by muscle hypertrophy, myotonic discharges, and nondystrophic myotonia with a warm-up phenomenon was evaluated, and the candidate canine CLCN1 gene was sequenced. The molecular analysis revealed a frameshift mutation NM_001003124.2:c.436_437insCTCT that resulted in a frameshift and a premature stop codon NP_001003124.1:pTyr146SerfsTer49 . Two aberrant alternative CLCN1 transcripts were observed in an affected dog, the expected transcript with the 4 bp insertion, NM_001003124.2:r.436_437insctct, and an unexpected transcript containing parts of intron 6 in addition to the insertion in exon 4, NM_001003124.2:[r.436_437insctct;r.774_775ins79]. In conclusion, the frameshift mutation in the CLCN1 gene is associated with autosomal recessive HM in American Bulldog and this study constitutes the first description of the disease in this breed. (c) 2020 Elsevier B.V. All rights reserved.-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)-
Descrição: dc.descriptionUniv Estadual Paulista, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil-
Descrição: dc.descriptionRua Prof Dr Walter Mauricio Correa S-N, BR-18618681 Botucatu, SP, Brazil-
Descrição: dc.descriptionUniv Fed Goias, Sch Vet & Anim Sci, Goiania, Go, Brazil-
Descrição: dc.descriptionRodovia Goiania,Km 8 S-N Campus Samambaia, BR-74001970 Goiania, Go, Brazil-
Descrição: dc.descriptionUniv Ctr UNILEAO, Juazeiro Do Norte, Ceara, Brazil-
Descrição: dc.descriptionAv Maria Leticia Leite Pereira S-N, BR-63040405 Juazeiro Do Norte, CE, Brazil-
Descrição: dc.descriptionCALE Anim Surg & Specialized Diagnost Lab, Jundiai, SP, Brazil-
Descrição: dc.descriptionRua Italia,106 Jardim Bonfiglioli, BR-13207280 Jundiai, SP, Brazil-
Descrição: dc.descriptionRua Parana 330, BR-75709240 Catalao, Go, Brazil-
Descrição: dc.descriptionUniv Fed Uberlandia, Sch Vet Med, Uberlandia, MG, Brazil-
Descrição: dc.descriptionAv Mato Grosso 3289,Bloco 2S, BR-38405314 Uberlandia, MG, Brazil-
Descrição: dc.descriptionUniv Estadual Paulista, Inst Biotechnol, Botucatu, SP, Brazil-
Descrição: dc.descriptionAlameda Tecomarias S-N, BR-18607440 Botucatu, SP, Brazil-
Descrição: dc.descriptionUniv Estadual Paulista, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, Botucatu, SP, Brazil-
Descrição: dc.descriptionUniv Estadual Paulista, Inst Biotechnol, Botucatu, SP, Brazil-
Formato: dc.format991-998-
Idioma: dc.languageen-
Publicador: dc.publisherElsevier B.V.-
Relação: dc.relationNeuromuscular Disorders-
???dc.source???: dc.sourceWeb of Science-
Palavras-chave: dc.subjectChloride channel-
Palavras-chave: dc.subjectSkeletal muscle-
Palavras-chave: dc.subjectElectromyography-
Palavras-chave: dc.subjectMuscular hypertrophy-
Título: dc.titleHereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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