ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G.
Smeland MF, et al. Among authors: emfinger ch.
Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7.
Nat Commun. 2019.
PMID: 31575858
Free PMC article.