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Article

Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

Neuromuscular disorders : NMD - 1 Apr 2014

Passeri Elena, Sansone Valeria A, Verdelli Chiara, Mendola Marco, Corbetta Sabrina

Abstract excerpt

Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations. Here we report the case of a young woman who sought medical attention because of subacute onset of diffuse and severe limb myotonia. CLCN1 gene sequencing showed a...

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Source

Identifiers

PMID: 24530047
DOI: 10.1016/j.nmd.2014.01.006

Genes

CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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