Myotonia congenita: novel mutations in CLCN1 gene
Author:
Affiliation:
1. Department of Neurology; Rui Jin Hospital and Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine; Shanghai, China
Publisher
Informa UK Limited
Subject
Biochemistry,Biophysics
Link
https://www.tandfonline.com/doi/pdf/10.1080/19336950.2015.1075676
Reference33 articles.
1. Chapter 2 Myotonia Congenita
2. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
3. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions
4. Nondystrophic myotonia: Challenges and future directions
5. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
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