Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye201280.pdf
Reference19 articles.
1. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, van Ghuelue M . Spectrum of CLCN1 mutations in patients with myotonia congenita in northern Scandinavia. Eur J Hum Genet 2001; 9: 903–909.
2. Thomsen J . Tonische Krampfe in willkurlich beweglichen Muskelm in Folge von ererbter psychischer disposition (ataxia muscularis?). Arch Psychiatr Nervenkr 1876; 6: 702–718.
3. Becker PE . Myotonia Congenital and Syndromes Associated with Myotonia. Thieme: Stuttgart, 1977.
4. Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC et al. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 2008; 16: 921–929.
5. Colding-Jorgenson E . Phenotypic variability in myotonia congenital. Muscle Nerve 2005; 32: 19–34.
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