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Article

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.

Proceedings of the National Academy of Sciences of the United States of America - 8 Jul 2008

Ueda Kazuo, Valdivia Carmen, Medeiros-Domingo Argelia, Tester David J, Vatta Matteo, Farrugia Gianrico, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

Mutations in 11 genes that encode ion channels or their associated proteins cause inherited long QT syndrome (LQTS) and account for approximately 75-80% of cases (LQT1-11). Direct sequencing of SNTA1, the gene encoding alpha1-syntrophin, was performed in a cohort of LQTS patients that were negative for mutations in the 11 known LQTS-susceptibility genes. A missense mutation (A390V-SNTA1) was found in a patient...

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Share to Nitric Oxide Synthase Type I

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Source

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Identifiers

PMID: 18591664
DOI: 10.1073/pnas.0801294105
PMCID: PMC2442127

Genes

SNTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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