References
Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG, CINCH Investigators (2010) The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 133:9–22
Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik K, Jentsch T (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257:797–800
Fahlke C, Beck CL, George AL Jr (1997) A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A 94:2729–2734
Colding-Jorgensen E (2005) Phenotypic variability in myotonia congenita. Muscle Nerve 32:19–34
Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B (1998) Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 50:1176–1179
Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH (1998) Identification of two mutations and a polymorphism in the chloride channel CLCN1 in patients with Becker’s generalized myotonia. Neurogenetics 1:185–188
Lucchiari S, Ulzi G, Magri F, Bucchia M, Corbetta F, Servida M, Moggio M, Comi GP, Lecchi M (2013) Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. J Physiol Pharmacol 64:669–678
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Rights and permissions
About this article
Cite this article
Mantero, V., Lucchiari, S., Balgera, R. et al. Novel Lys215Asn mutation in an Italian family with Thomsen myotonia. Neurol Sci 39, 1491–1492 (2018). https://doi.org/10.1007/s10072-018-3311-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-018-3311-8