Key result
Systematic screening of the CLCN1 gene in 88 patients with myotonia identified mutations in 14 patients, including 6 novel mutations that significantly reduce resting chloride conductance.
Population
88 unrelated patients with myotonia
Design
Other
Authors
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May inform genetic counseling in myotonia; extends the CLCN1 spectrum but remains hypothesis-generating.
Observational (n=88)
Identification of novel CLCN1 mutations expands the genetic and functional understanding of myotonia congenita and related phenotypes.
Fen Wu (2002) conducted an observational in Myotonia (n=88). CLCN1 gene mutations was evaluated on Identification of CLCN1 mutations and their functional consequences. Systematic screening of the CLCN1 gene in 88 patients with myotonia identified mutations in 14 patients, including 6 novel mutations that significantly reduce resting chloride conductance.
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