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Article

Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.

European journal of neurology - 1 Apr 2024

Jacobsen Laura Nørager, Stemmerik Mads Godtfeldt, Skriver Sofie Vinther, Pedersen Jonas Jalili, Løkken Nicoline, Vissing John

Abstract excerpt

BACKGROUND AND PURPOSE: Myotonia congenita (MC) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel Gene (CLCN1) cause myotonia. This study used muscle magnetic resonance imaging (MRI) to quantify contractile properties and fat replacement of muscles in a Danish cohort of MC patients. METHODS: Individuals with the Thomsen (dominant) and Becker (recessive) variants of MC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38270354
DOI: 10.1111/ene.16207
PMCID: PMC11235747

Genes

CLCN1

Provenance

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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