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Article

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

Brain : a journal of neurology - 1 Nov 2002

Wu Fen-Fen, Ryan Aisling, Devaney Joseph, Warnstedt Maike, Korade-Mirnics Zeljka, Poser Barbara, Escriva Maria Jose, Pegoraro Elena, Yee Audrey S, Felice Kevin J, Giuliani Michael J, Mayer Richard F, Mongini Tiziana, Palmucci Laura, Marino Michael, Rüdel Reinhardt, Hoffman Eric P, Fahlke Christoph

Abstract excerpt

Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense mutation (E193X)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12390967
DOI: 10.1093/brain/awf246

Genes

CLCN1

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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