Article
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Cells - 11 Feb 2021
Brenes Oscar, Barbieri Raffaella, Vásquez Melissa, Vindas-Smith Rebeca, Roig Jeffrey, Romero Adarli, Valle Gerardo Del, Bermúdez-Guzmán Luis, Bertelli Sara, Pusch Michael, Morales Fernando
Abstract excerpt
Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen's disease. One novel mutation (p.W322*) in CLCN1 and one undescribed mutation (p.R1463H) in SCN4A are segregating in this family. The CLCN1-p.W322* was also found in an unrelated family, in...
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