Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

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dc.contributor.author Gurgel-Giannetti, Juliana
dc.contributor.author Senkevics, Adriano S.
dc.contributor.author Zilbersztajn-Gotlieb, Dinorah
dc.contributor.author Yamamoto, Lydia Uraco
dc.contributor.author Muniz, Viviane Palhares
dc.contributor.author Pavanello, Rita C. M.
dc.contributor.author Oliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.author Zatz, Mayana
dc.contributor.author Vainzof, Mariz
dc.date.accessioned 2016-01-24T14:17:50Z
dc.date.available 2016-01-24T14:17:50Z
dc.date.issued 2012-02-01
dc.identifier http://dx.doi.org/10.1002/mus.22252
dc.identifier.citation Muscle & Nerve. Malden: Wiley-Blackwell, v. 45, n. 2, p. 279-283, 2012.
dc.identifier.issn 0148-639X
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/34560
dc.description.abstract We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia. Muscle Nerve, 2012 en
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorship Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorship Instituto Nacional de Ciencia e Tecnologia (INCT)
dc.description.sponsorship FINEP
dc.description.sponsorship Associacao Brasileira de Distrofia Muscular (ABDIM)
dc.format.extent 279-283
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof Muscle & Nerve
dc.rights Acesso restrito
dc.subject Becker myotonia en
dc.subject CLCN1 gene en
dc.subject congenital myotonia en
dc.subject phenotype variability en
dc.subject Thomsen myotonia en
dc.title Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Federal de Minas Gerais (UFMG)
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ São Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 São Paulo, Brazil
dc.description.affiliation Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.identifier.doi 10.1002/mus.22252
dc.description.source Web of Science
dc.identifier.wos WOS:000299077700020



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