Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

Laura Vanden BrandeStéphanie BauchéLaura Pérez-GuàrdiaDamien SternbergAndreea M SeferianEdoardo MalfattiRoberto Silva-RojasClémence LabasseFrédéric ChevessierPierre CarlierBruno EymardNorma B RomeroJocelyn LaporteLaurent ServaisTeresa GidaroJohann Böhm

Published in: Neuropathology and applied neurobiology (2023)

We expand the genetic variant spectrum of LG-CMS and provide a genotype/phenotype correlation for pathogenic DPAGT1 variants. The discovery of ORAI1 hypoglycosylation in our patients highlights a physiopathological link between LG-CMS and TAM.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
small molecule
genome wide
case report
patient reported outcomes
endothelial cells
single cell