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Article

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

The Yale journal of biology and medicine - 1 Mar 2013

Lakraj Amanda Amrita, Miller Geoffrey, Vortmeyer Alexander O, Khokhar Babar, Nowak Richard J, DiCapua Daniel B

Abstract excerpt

INTRODUCTION: Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS: We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS: Patient 1 has been diagnosed...

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Identifiers

PMID: 23483815
PMCID: PMC3584487

Genes

CLCN1

Provenance

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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