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Article

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Muscle & nerve - 1 Apr 2014

Richardson Randal C, Tarleton Jack C, Bird Thomas D, Gospe Sidney M

Abstract excerpt

INTRODUCTION: Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance. METHODS: Three family kindreds are described, all of whom possess protein truncating mutations (Y33X, fs503X, R894X). One lineage also has coexistent R894X, A313T, and A...

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Source

Identifiers

PMID: 23893571
DOI: 10.1002/mus.23976

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23893571-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.PMID 23893571Read ↗

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