PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
Hebah Qashqari, Vanda McNiven, Hernán Gonorazky, Roberto Mendoza‐Londono, Ahmad Sanusi Hassan, Tapas Kulkarni, Kimberly Amburgey, James J. Dowling
Topics & Concepts
PhenotypeMedicineCongenital myasthenic syndromeSalbutamolNeuromuscular junctionClinical phenotypeGenetic testingPediatricsBioinformaticsNeuroscienceInternal medicineGeneticsGenePsychologyBiologyAsthmaAcetylcholine receptorReceptorPolyomavirus and related diseasesVirus-based gene therapy researchViral Infections and Immunology Research