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

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

Author Gurgel-Giannetti, Juliana Google Scholar
Senkevics, Adriano S. Google Scholar
Zilbersztajn-Gotlieb, Dinorah Google Scholar
Yamamoto, Lydia Uraco Google Scholar
Muniz, Viviane Palhares Google Scholar
Pavanello, Rita C. M. Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Zatz, Mayana Google Scholar
Vainzof, Mariz Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de Minas Gerais (UFMG)
Universidade Federal de São Paulo (UNIFESP)
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
Keywords Becker myotonia
CLCN1 gene
congenital myotonia
phenotype variability
Thomsen myotonia
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Instituto Nacional de Ciencia e Tecnologia (INCT)
FINEP
Associacao Brasileira de Distrofia Muscular (ABDIM)
Date 2012-02-01
Published in Muscle & Nerve. Malden: Wiley-Blackwell, v. 45, n. 2, p. 279-283, 2012.
ISSN 0148-639X (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 279-283
Origin http://dx.doi.org/10.1002/mus.22252
Access rights Closed access
Type Article
Web of Science ID WOS:000299077700020
URI http://repositorio.unifesp.br/handle/11600/34560

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