Becker’s myotonia: novel mutations and clinical variability in patients born to consanguineous parents
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
http://link.springer.com/article/10.1007/s13760-018-0893-0/fulltext.html
Reference22 articles.
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2. Tang C-Y, Chen T-Y (2011) Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia. BioMed Res Int 2011:685328
3. Pedersen TH, Riisager A, de Paoli FV, Chen TY, Nielsen OB (2016) Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle. J Gen Physiol 147:291–308
4. Fahlke C (2011) Chloride channels take center stage in a muscular drama. J Gen Physiol 137:17–19
5. Colding-Jorgensen E (2005) Phenotypic variability in myotonia congenita. Muscle Nerve 32:19–34
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2. Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report;Human Gene;2022-12
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5. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the clcn1 gene;The Turkish Journal of Pediatrics;2020
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