Recessive pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
Gordon A E JewettBenjamin BelandShahin KhayambashiSarah SilversteinSandra DonkervoortCarsten G BönnemannGerald PfefferSameer ChhibberPublished in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2023)