1. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
- Author
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Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, and Vainzof M
- Subjects
- Adenosine Triphosphatases metabolism, Adolescent, Brazil, Child, Consanguinity, Echocardiography, Exons genetics, Family Health, Female, Humans, Male, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Myotonia pathology, Myotonia physiopathology, Myotonia Congenita pathology, Myotonia Congenita physiopathology, Neural Conduction genetics, Phenotype, Chloride Channels genetics, Codon, Nonsense genetics, Myotonia genetics, Myotonia Congenita genetics
- 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., (Copyright © 2011 Wiley Periodicals, Inc.)
- Published
- 2012
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