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5. Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. Weinberger S; Wojciechowski D; Sternberg D; Lehmann-Horn F; Jurkat-Rott K; Becher T; Begemann B; Fahlke C; Fischer M J Physiol; 2012 Aug; 590(15):3449-64. PubMed ID: 22641783 [TBL] [Abstract][Full Text] [Related]
6. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. Richman DP; Yu Y; Lee TT; Tseng PY; Yu WP; Maselli RA; Tang CY; Chen TY Neuromolecular Med; 2012 Dec; 14(4):328-37. PubMed ID: 22790975 [TBL] [Abstract][Full Text] [Related]
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10. An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels. Fahlke C; Rüdel R; Mitrovic N; Zhou M; George AL Neuron; 1995 Aug; 15(2):463-72. PubMed ID: 7646898 [TBL] [Abstract][Full Text] [Related]
11. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Fahlke C; Beck CL; George AL Proc Natl Acad Sci U S A; 1997 Mar; 94(6):2729-34. PubMed ID: 9122265 [TBL] [Abstract][Full Text] [Related]
12. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Pusch M; Steinmeyer K; Koch MC; Jentsch TJ Neuron; 1995 Dec; 15(6):1455-63. PubMed ID: 8845168 [TBL] [Abstract][Full Text] [Related]
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