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Univ Hosp North Norway, Dept Clin Neurophysiol, Tromso, Norway..
Univ Ulm, Div Neurophysiol, D-89069 Ulm, Germany.;Univ Ulm, Neuromuscular Ctr, D-89069 Ulm, Germany..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
Univ Hosp North Norway, Dept Clin Neurophysiol, Tromso, Norway..
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2015 (English)In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 52, no 4, 680-683 p.Article in journal (Refereed) Published
Abstract [en]

Introduction: Two previously reported Norwegian patients with painful muscle cramps and giant myotonic discharges were genotyped and compared with those of members of 21 families harboring the same mutation. Methods: Using primers specific for SCN4A and CLCN1, the DNA of the Norwegian family members was amplified and bidirectionally sequenced. Clinical and neurophysiological features of other families harboring the same mutation were studied. Results: A G1306A mutation in the Nav1.4 voltage-gated sodium channel of skeletal muscle was identified. This mutation is known to cause myotonia fluctuans. No giant myotonic discharges or painful muscle cramps were found in the other G1306A families. Conclusions: Ephaptic transmission between neighboring muscle fibers may not only cause the unusual size of the myotonic discharges in this family, but also a more severe type of potassium-aggravated myotonia than myotonia fluctuans.

Place, publisher, year, edition, pages
2015. Vol. 52, no 4, 680-683 p.
Keyword [en]
ephaptic transmission, G1306A, muscle pain, mutation, myotonia, positive waves
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URN: urn:nbn:se:uu:diva-265839DOI: 10.1002/mus.24672ISI: 000362544400032PubMedID: 26080010OAI: oai:DiVA.org:uu-265839DiVA: diva2:866584
Available from: 2015-11-03 Created: 2015-11-03 Last updated: 2015-11-03Bibliographically approved

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