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Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2020

Troha Gergeli Anja, Neubauer David, Golli Tanja, Butenko Tita, Loboda Tanja, Maver Aleš, Osredkar Damjan

Abstract excerpt

AIM: Congenital myasthenic syndromes (CMS) are rare, genetically and phenotypically diverse disorders of neuromuscular transmission. Data on prevalence among children are scarce. Whole exome sequencing facilitated discovery of novel CMS mutations and enabled targeted treatment. Our aim was to identify the prevalence, genetic subtypes and clinical characteristics of CMS in pediatric population of Slovenia....

Topics

Adolescent
Child
Cross-Sectional Studies
Female
Humans
Male
Mutation
Myasthenic Syndromes, Congenital
Prevalence
Retrospective Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Slovenia

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PMID: 32070632
DOI: 10.1016/j.ejpn.2020.02.002

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