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

In a recent large collaborative study with our international colleagues, we report nine newly described individuals with ABCC9-related intellectual disability and myopathy syndrome (AIMS). All nine individuals have homozygous loss-of-function variants in the ABCC9 gene, which encodes SUR2, a regulatory subunit of ATP-sensitive potassium channels. See more in, "Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome" https://doi.org/10.1093/brain/awae010