| 概要 |
Intellectual disability and myopathy syndrome (IDMYS) is a novel syndrome characterized by mild intellectual disability, a characteristic face, myopathy, and cerebral white matter hyperintensity. It has been reported that loss-of-function mutations in ABCC9 cause this syndrome. ABCC9 encodes a subunit of ATP-sensitive potassium channels.
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| 著者 |
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GAM, Hjellnes H, Arntzen KA, Muller 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 |
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