Browsing SIHF Open Archive by Subject "ABCC9;"

Now showing items 1-1 of 1

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

      Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin Amanda; 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; Ansari, Morad; Hamilton, Mark; Van Haelst, Mieke M; Van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie Louise Falkenberg; McClenaghan, Conor (Peer reviewed; Journal article, 2024)
      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 ...