PMC Links for OMIM (Select 118425) - PMC - NCBI

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Items: 13

Select item 90147451.

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia

Karen Suetterlin, Emma Matthews, Richa Sud, Samuel McCall, Doreen Fialho, James Burge, Dipa Jayaseelan, Andrea Haworth, Mary G Sweeney, Dimitri M Kullmann, Stephanie Schorge, Michael G Hanna, Roope Männikkö

Brain. 2022 Feb; 145(2): 607–620. Published online 2021 Sep 16. doi: 10.1093/brain/awab344

PMCID:: PMC9014745

Abstract Article PDF–1.2M

Select item 36623062.

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

Tim T. Chen, Tara L. Klassen, Alica M. Goldman, Carla Marini, Renzo Guerrini, Jeffrey L. Noebels

Neurology. 2013 Mar 19; 80(12): 1078–1085. doi: 10.1212/WNL.0b013e31828868e7

PMCID:: PMC3662306

Abstract Article PDF–858K

Select item 33695093.

A new explanation for recessive myotonia congenita: Exon deletions and duplications in CLCN1

D.L. Raja Rayan, A. Haworth, R. Sud, E. Matthews, D. Fialho, J. Burge, S. Portaro, S. Schorge, K. Tuin, P. Lunt, M. McEntagart, A. Toscano, M.B. Davis, M.G. Hanna

Neurology. 2012 Jun 12; 78(24): 1953–1958. doi: 10.1212/WNL.0b013e318259e19c

PMCID:: PMC3369509

Abstract Article PDF–378K

Select item 22906944.

A novel alteration of muscle chloride channel gating in myotonia levior

Aisling Ryan, Reinhardt Rüdel, Maya Kuchenbecker, Christoph Fahlke

J Physiol. 2002 Dec 1; 545(Pt 2): 345–354. Published online 2002 Sep 20. doi: 10.1113/jphysiol.2002.027037

PMCID:: PMC2290694

Abstract Article PDF–652K

Select item 22256355.

Sodium, Potassium, and Chloride Fluxes in Intercostal Muscle from Normal Goats and Goats with Hereditary Myotonia

R. J. Lipicky, S. H. Bryant

J Gen Physiol. 1966 Sep 1; 50(1): 89–111. doi: 10.1085/jgp.50.1.89

PMCID:: PMC2225635

Summary PDF–1.2M

Select item 19145356.

Novel muscle chloride channel mutations and their effects on heterozygous carriers.

V. Mailänder, R. Heine, F. Deymeer, F. Lehmann-Horn

Am J Hum Genet. 1996 Feb; 58(2): 317–324.

PMCID:: PMC1914535

Summary Page Browse PDF–1.9M

Select item 18014237.

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

C Meyer-Kleine, K Steinmeyer, K Ricker, T J Jentsch, M C Koch

Am J Hum Genet. 1995 Dec; 57(6): 1325–1334.

PMCID:: PMC1801423

Summary Page Browse PDF–1.6M

Select item 13310268.

On the repetitive discharge in myotonic muscle fibres

R. H. Adrian, S. H. Bryant

J Physiol. 1974 Jul; 240(2): 505–515. doi: 10.1113/jphysiol.1974.sp010620

PMCID:: PMC1331026

Summary Page Browse PDF–952K

Select item 10165989.

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

M C Koch, K Ricker, M Otto, F Wolf, B Zoll, C Lorenz, K Steinmeyer, T J Jentsch

J Med Genet. 1993 Nov; 30(11): 914–917. doi: 10.1136/jmg.30.11.914

PMCID:: PMC1016598

Summary Page Browse PDF–766K

Select item 39486910.

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

K Steinmeyer, C Lorenz, M Pusch, M C Koch, T J Jentsch

EMBO J. 1994 Feb 15; 13(4): 737–743. doi: 10.1002/j.1460-2075.1994.tb06315.x

PMCID:: PMC394869

Summary Page Browse PDF–1.4M

Select item 15098511.

Activation of the MEF2 transcription factor in skeletal muscles from myotonic mice

Hai Wu, Eric N. Olson

J Clin Invest. 2002 May 15; 109(10): 1327–1333. doi: 10.1172/JCI15417

PMCID:: PMC150985

Abstract Article PDF–1.5M

Select item 3831512.

Molecular basis for decreased muscle chloride conductance in the myotonic goat.

C L Beck, C Fahlke, A L George, Jr

Proc Natl Acad Sci U S A. 1996 Oct 1; 93(20): 11248–11252. doi: 10.1073/pnas.93.20.11248

PMCID:: PMC38315

Summary Page Browse PDF–1.2M

Select item 2015813.

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

Christoph Fahlke, Carol L. Beck, Alfred L. George, Jr.

Proc Natl Acad Sci U S A. 1997 Mar 18; 94(6): 2729–2734. doi: 10.1073/pnas.94.6.2729

PMCID:: PMC20158

Abstract Article PDF–251K

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