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Article

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.

Neuromuscular disorders : NMD - 1 Apr 2015

Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund M P, Meola G

Abstract excerpt

In myotonic dystrophy type 2 (DM2), an association has been reported between early and severe myotonia and recessive chloride channel (CLCN1) mutations. No DM2 cases have been described with sodium channel gene (SCN4A) mutations. The aim is to describe a DM2 patient with severe and early onset myotonia and co-occurrence of a novel missense mutation in SNC4A. A 26-year-old patient complaining of hand cramps and...

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Source

Identifiers

PMID: 25660391
DOI: 10.1016/j.nmd.2015.01.006

Genes

CLCN1

Variants

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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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