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References

These sources were used to develop the Genetics Home Reference condition summary on myotonia congenita.

Bradley, W G((Walter George)); Neurology in clinical practice; 4th ed.; Philadelphia, PA : Butterworth-Heinemann, c2004. p1853-1854.
Chrestian N, Puymirat J, Bouchard JP, Dupré N. Myotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399. PubMed citation
Colding-Jørgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve. 2005 Jul;32(1):19-34. Review. PubMed citation
Gene Review: Myotonia Congenita
Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat. 2002 Apr;19(4):423-34. Review. PubMed citation
Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet. 2001 Dec;9(12):903-9. Erratum in: Eur J Hum Genet. 2010 Feb;18(2):264. 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

Reviewed: April 2007

Published: June 17, 2013