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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.

Human mutation - 1 Jan 2016

Vindas-Smith Rebeca, Fiore Michele, Vásquez Melissa, Cuenca Patricia, Del Valle Gerardo, Lagostena Laura, Gaitán-Peñas Héctor, Estevez Raúl, Pusch Michael, Morales Fernando

Abstract excerpt

Mutations in the gene coding for the skeletal muscle Cl(-) channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type 1 but who were negative for DM1 mutations. CLCN1 mutations c.501C>G, p.F167L and c.1235A>C, p.Q412P appeared to have recessive inheritance but patients had...

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PMID: 26510092
DOI: 10.1002/humu.22916

Genes

CLCN1

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