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Article

Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

Muscle & nerve - 1 Oct 2015

Torbergsen Torberg, Jurkat-Rott Karin, Stålberg Erik V, Løseth Sissel, Hødneø Anne, Lehmann-Horn Frank

Abstract excerpt

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...

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Identifiers

PMID: 26080010
DOI: 10.1002/mus.24672

Genes

CLCN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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