Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01785-4.pdf
Reference22 articles.
1. Brugnoni R, Kapetis D, Imbrici P et al (2013) A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet 58:581–587. https://doi.org/10.1038/jhg.2013.58
2. Chen L, Schaerer M, Lu ZH et al (2004) Exon 17 skipping inCLCN1 leads to recessive myotonia congenita. Muscle Nerve 29:670–676. https://doi.org/10.1002/mus.20005
3. Cherian A, Baheti N, Kuruvilla A (2008) Muscle channelopathies and electrophysiological approach. Ann Indian Acad Neurol 11:20. https://doi.org/10.4103/0972-2327.40221
4. Colding-Jørgensen E, DunØ M, Schwartz M, Vissing J (2003) Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 27:449–455. https://doi.org/10.1002/mus.10347
5. Colding-Jørgensen E (2004) Thomsens sygdom (myotonia congenita) [Thomsen disease (myotonia congenita)]. Ugeskr Laeger 166:3179–3184
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