Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated fami...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2024-05, Vol.147 (5), p.1822-1836
Hauptverfasser:	Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin A, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, van Haelst, Mieke M, van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie F, McClenaghan, Conor
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Animals Child Child, Preschool Female Humans Intellectual Disability - genetics Loss of Function Mutation - genetics Male Muscular Diseases - genetics Pedigree Sulfonylurea Receptors - genetics Young Adult Zebrafish
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