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Article

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

Eye (London, England) - 1 Aug 2012

Du H, Grob S R, Zhao L, Lee J, El-Sahn M, Hughes G, Luo J, Schaf K, Duan Y, Quach J, Wei X, Shaw P, Granet D, Zhang K

Abstract excerpt

BACKGROUND/AIMS: To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family. METHODS: Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including bes...

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Source

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Identifiers

PMID: 22653516
DOI: 10.1038/eye.2012.80
PMCID: PMC3420053

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22653516-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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