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It can be associated with transient weakness during quick movements lasting only seconds or as long as thirty minutes in Becker disease (Jurkat-Rott et al.
Here we report clinical and molecular data from a family carrying a new mutation in the CLCN1 gene causing Becker disease and discuss the possible implications of the mutations and the function-structure-phenotype relationships in the CLCN1 channel.
The phenotype was consistent with a clinical diagnosis of myotonia congenita, Becker disease.
According to the clinical results obtained in this study, we concluded that the clinical picture of this family is compatible with myotonia congenita, and its autosomal recessive inheritance pattern suggested the diagnosis of Becker disease.
1996), reported that clinically unaffected heterozygous males, but no females, presented latent myotonia in six families affected with Becker disease, however, our clinically unaffected heterozygous males (I.
The similarity between the myocardial dystrophy observed in ARVC and the skeletal muscular dystrophy observed in Duchenne and Becker diseases and the structural homology between the [alpha]-actinin gene and the amino-terminal domain of dystrophin are all highly suggestive of a defective [alpha]-actinin gene.