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Article

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

Neurology - 1 Oct 1996

Koty P P, Pegoraro E, Hobson G, Marks H G, Turel A, Flagler D, Cadaldini M, Angelini C, Hoffman E P

Abstract excerpt

The delayed relaxation or sustained contraction of skeletal muscle-myotonia-is frequently seen in myotonic dystrophy and sodium channelopathies (hyperkalemic periodic paralysis, paramyotonia congenita). Many cases of congenital myotonia without other clinical symptoms have been associated with mutations in the muscle chloride channel gene. Most cases reported to date show a recessive inheritance pattern, with...

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Source

Identifiers

PMID: 8857727
DOI: 10.1212/wnl.47.4.963

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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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