MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

Literature (6)

Literature for OMIM 160800: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

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The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia., Saviane C,Conti F,Pusch M, J Gen Physiol. March 1, 1999; 113(3):1540-7748.
Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.
Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.
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. December 1, 2012; 14(4):1559-1174.
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.

Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.

Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.

Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.