Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS, Group S, Pitt M, Bello OD, Rothman JE, Basel‐Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Annals Of Neurology 2017, 81: 597-603. PMID: 28253535, PMCID: PMC5413866, DOI: 10.1002/ana.24905.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChild, PreschoolCodon, NonsenseConsanguinityDisease Models, AnimalFemaleHomozygoteHumansIsraelKuwaitMaleMiceMice, TransgenicMyasthenic Syndromes, CongenitalNeuromuscular JunctionPedigreeVesicle-Associated Membrane Protein 1ConceptsPresynaptic congenital myasthenic syndromeCongenital myasthenic syndromePresynaptic impairmentMyasthenic syndromeLow compound muscle action potentialsNeuromuscular junctionCompound muscle action potentialPresynaptic neuromuscular junctionHomozygous mutationMuscle action potentialsAnn NeurolNMJ transmissionElectrodiagnostic examinationNeurophysiological featuresAction potentialsLew/Homozygous variantMRNA levelsSyndromeWhole exomeImpairmentVAMP1Kuwaiti familyNonsense mutationMutations