Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

doi:10.1038/s10038-024-01228-7

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Article

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

Journal of human genetics - 1 May 2024

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

Abstract excerpt

We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.129+5 G > A in the boy patient (P1) and c.341-24_341-16delinsAGAAAA in the girl patient (P2). This gene encodes the vesicle-associated membrane protein 1...

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PMID: 38355957
DOI: 10.1038/s10038-024-01228-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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