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Article

Andersen's syndrome mutants produce a knockdown of inwardly rectifying K+ channel in mouse skeletal muscle in vivo.

Cell and tissue research - 1 Feb 2018

Simkin Dina, Robin Gaëlle, Giuliano Serena, Vukolic Ana, Moceri Pamela, Guy Nicolas, Wagner Kay-Dietrich, Lacampagne Alain, Allard Bruno, Bendahhou Saïd

Abstract excerpt

Andersen's syndrome (AS) is a rare autosomal disorder that has been defined by the triad of periodic paralysis, cardiac arrhythmia, and developmental anomalies. AS has been directly linked to over 40 different autosomal dominant negative loss-of-function mutations in the KCNJ2 gene, encoding for the tetrameric strong inward rectifying K+ channel KIR2.1. While KIR2.1 channels have been suggested to contribute to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29018970
DOI: 10.1007/s00441-017-2696-7

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Andersen's syndrome mutants produce a knockdown of inwardly rectifying K+ channel in mouse skeletal muscle in vivo.PMID 29018970Read ↗

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