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Article

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.

Experimental neurology - 1 Oct 2013

Desaphy Jean-François, Gramegna Gianluca, Altamura Concetta, Dinardo Maria Maddalena, Imbrici Paola, George Alfred L, Modoni Anna, Lomonaco Mauro, Conte Camerino Diana

Abstract excerpt

Myotonia congenita (MC) is caused by loss-of-function mutations of the muscle ClC-1 chloride channel. Clinical manifestations include the variable association of myotonia and transitory weakness. We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimulation protocol, different values of compound muscle action potential (CMAP) transitory depression, which is...

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Identifiers

PMID: 23933576
DOI: 10.1016/j.expneurol.2013.07.018
PMCID: PMC3781327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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