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Article

SCN4A as modifier gene in patients with myotonic dystrophy type 2.

Scientific reports - 23 Jul 2018

Binda Anna, Renna Laura V, Bosè Francesca, Brigonzi Elisa, Botta Annalisa, Valaperta Rea, Fossati Barbara, Rivolta Ilaria, Meola Giovanni, Cardani Rosanna

Abstract excerpt

A patient with an early severe myotonia diagnosed for Myotonic Dystrophy type 2 (DM2) was found bearing the combined effects of DM2 mutation and Nav1.4 S906T substitution. To investigate the mechanism underlying his atypical phenotype,whole-cell patch-clamp in voltage- and current-clamp mode was performed in myoblasts and myotubes obtained from his muscle biopsy. Results characterizing the properties of the...

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Source

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Identifiers

PMID: 30038349
DOI: 10.1038/s41598-018-29302-z
PMCID: PMC6056531

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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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