Reporte de caso
Published on 4 de junio de 2019 | http://doi.org/10.5867/medwave.2019.05.7645
Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity
Hederogram of the phenomenon of compound heterozygosis for transmission of two different mutations from both parents on the same gene.
