Objective: To recognize individuals with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences from the mutations. in 3 and reduced quantal discharge in individual 6 severely. Endplate acetylcholine receptor content material was low in only 1 individual moderately. The synaptic contacts were single and small or grape-like and quantitative electron microscopy revealed hypoplastic endplate regions. Numerous… Continue reading Objective: To recognize individuals with GFPT1-related limb-girdle myasthenia and analyze phenotypic