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Title: Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Authors: Gurgel-Giannetti, Juliana
Senkevics, Adriano S.
Zilbersztajn-Gotlieb, Dinorah
Yamamoto, Lydia Uraco
Muniz, Viviane Palhares
Pavanello, Rita C. M.
Oliveira, Acary Souza Bulle [UNIFESP]
Zatz, Mayana
Vainzof, Mariz
Universidade de São Paulo (USP)
Universidade Federal de Minas Gerais (UFMG)
Universidade Federal de São Paulo (UNIFESP)
Keywords: Becker myotonia
CLCN1 gene
congenital myotonia
phenotype variability
Thomsen myotonia
Issue Date: 1-Feb-2012
Publisher: Wiley-Blackwell
Citation: Muscle & Nerve. Malden: Wiley-Blackwell, v. 45, n. 2, p. 279-283, 2012.
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
ISSN: 0148-639X
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