Key result
A novel Q412P mutation in the CLCN1 gene was identified as the cause of Becker myotonia in a Costa Rican family, while being absent in 200 unaffected chromosomes.
Population
A Costa Rican family diagnosed with a myotonic condition (Becker myotonia)
Comparison
Clinical and molecular diagnosis including PCR… vs 200 unaffected chromosomes
Design
Case_series
Authors
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Supports targeted CLCN1 screening in familial myotonia; leaves open prevalence, penetrance, and diagnostic utility.
Case Report
Identified a novel Q412P mutation in the CLCN1 gene responsible for autosomal recessive myotonia congenita (Becker disease) in a Costa Rican family.
Morales et al. (2006) conducted a case report in Autosomal recessive myotonia congenita (Becker disease). Q412P mutation in the CLCN1 gene vs. Unaffected chromosomes was evaluated on Clinical and molecular diagnosis of Becker myotonia. A novel Q412P mutation in the CLCN1 gene was identified as the cause of Becker myotonia in a Costa Rican family, while being absent in 200 unaffected chromosomes.
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