Key result
Genetic analysis of myotonia congenita identifies six novel CLCN1 mutations linked to variable clinical features.
Population
10 unrelated Korean patients clinically diagnosed with Myotonia Congenita (MC)
Design
Case_series
Authors
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Does not alter diagnostic approaches in myotonia congenita; extends the known CLCN1 spectrum in Koreans but leaves clinical correlations open.
Observational (n=10)
Yes
Identified six novel CLCN1 mutations in Korean patients with myotonia congenita, expanding the genetic spectrum of the disease.
Moon et al. (2009) conducted an observational in Myotonia Congenita (n=10). CLCN1 mutations vs. Healthy controls (for genetic screening) was evaluated on Identification of CLCN1 mutations and clinical characteristics. Genetic analysis of 10 Korean patients with myotonia congenita identified nine different CLCN1 point mutations, including six novel mutations, associated with highly variable clinical features.
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