uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
PAINFUL CRAMPS AND GIANT MYOTONIC DISCHARGES IN A FAMILY WITH THE NAV1.4-G1306A MUTATION
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..
Show others and affiliations
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
National Category
Neurosciences
Identifiers
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: 2017-12-01Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Authority records BETA

Stalberg, Erik V.

Search in DiVA

By author/editor
Stalberg, Erik V.
By organisation
Clinical Neurophysiology
In the same journal
Muscle and Nerve
Neurosciences

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 254 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf