Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals - Cotrina-Vinagre, Francisco Javier; Rodríguez-García, María Elena; del Pozo-Filíu, Lucía; Hernández-Laín, Aurelio; Arteche-López, Ana; Morte, Beatriz; Sevilla, Marta; Pérez-Jurado, Luis Alberto; Quijada-Fraile, Pilar; Camacho, Ana; Martínez-Azorín, Francisco (Journal of human genetics, 2024)
Keywords: Alternative splicing; Alternative Splicing - genetics; Ataxia; Biopsy; C-Terminus; Child, Preschool; Exome Sequencing; Female; Homozygote; Humans; Infant; Isoforms; Male; Membrane proteins; Membrane vesicles; Mutation; Myasthenic Syndromes, Congenital - genetics; Myasthenic Syndromes, Congenital - pathology; Nervous system; Nucleotides; Pathogenicity; Patients; Pediatrics; Phenotype; Protein Isoforms - genetics; Proteins; RNA Splicing - genetics; Synaptic vesicles; Vesicle fusion; Vesicle-Associated Membrane Protein 1 - genetics