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Article

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

13 Jan 2024

Abstract excerpt

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 families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of...

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PMID: 38217872
DOI: 10.1093/brain/awae010

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