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References

These sources were used to develop the Genetics Home Reference gene summary on the CLCN1 gene.

Colding-Jørgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve. 2005 Jul;32(1):19-34. Review. PubMed citation
Dunø M, Colding-Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet. 2004 Sep;12(9):738-43. PubMed citation
Entrez Gene
Gene Review: Myotonia Congenita
Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dunø M. Characterization of two new dominant ClC-1 channel mutations associated with myotonia. Muscle Nerve. 2003 Dec;28(6):722-32. PubMed citation
Jentsch TJ, Stein V, Weinreich F, Zdebik AA. Molecular structure and physiological function of chloride channels. Physiol Rev. 2002 Apr;82(2):503-68. Review. Erratum in: Physiol Rev. 2003 Apr;83(2):following table of contents. PubMed citation
Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat. 2002 Apr;19(4):423-34. Review. PubMed citation
Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology. 2000 Feb 22;54(4):937-42. PubMed citation
Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology. 1996 Oct;47(4):993-8. PubMed citation


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