Key result
Four CLCN1 variants were identified in patients with recessive myotonia congenita, including a novel p.G270V mutation that drastically shifts the voltage dependence of channel activation toward positive potentials.
Population
4 patients with recessive Myotonia Congenita from 3 families, and tsA201 cells for functional…
Design
Case_series
Authors
Loading...
May aid diagnosis in recessive myotonia congenita; extends mutational spectrum but leaves clinical adoption open.
Case Report (n=4)
The study identifies novel CLCN1 mutations in recessive myotonia congenita and characterizes their functional impact on chloride channel activity, expanding the genetic spectrum of the disease.
Portaro et al. (2015) conducted a case report in Recessive Myotonia Congenita (n=4). CLCN1 mutations vs. Wild-type CLCN1 was evaluated on Chloride channel function and voltage dependence of activation. Four CLCN1 variants were identified in patients with recessive myotonia congenita, including a novel p.G270V mutation that drastically shifts the voltage dependence of channel activation toward positive potentials.