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Article

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

Muscle & nerve - 1 Feb 2012

Gurgel-Giannetti Juliana, Senkevics Adriano S, Zilbersztajn-Gotlieb Dinorah, Yamamoto Lydia U, Muniz Viviane P, Pavanello Rita C M, Oliveira Acary B, Zatz Mayana, Vainzof Mariz

Abstract excerpt

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...

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Identifiers

PMID: 22246887
DOI: 10.1002/mus.22252

Genes

CLCN1

Variants

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