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Article

Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS

8 May 2023

Abstract excerpt

Abstract ABCC9 ‐related intellectual disability and myopathy syndrome (AIMS) arises from loss‐of‐function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP‐sensitive potassium (K ATP ) channels. K ATP channels are found throughout the cardiovascular system and skeletal muscle and couple cellular metabolism to excitability. AIMS individuals show fatigability, muscle spasms, and cardiac...

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PMID: 37154692
DOI: 10.15252/emmm.202216883

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