SEARCH

SEARCH BY CITATION

Keywords:

  • Becker myotonia;
  • CLCN1 gene;
  • congenital myotonia;
  • phenotype variability;
  • Thomsen myotonia

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