Chapter 2 Myotonia Congenita
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Elsevier
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1. A pedigree of myotonia congenita with a novel mutation p.F343C of the <i>CLCN1</i> gene;Rinsho Shinkeigaku;2024
2. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report;BMC Neurology;2023-04-27
3. Plateau potentials contribute to myotonia in mouse models of myotonia congenita;Experimental Neurology;2023-03
4. Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family;Frontiers in Genetics;2023-01-03
5. Neurogenetic motor disorders;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023
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