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Article

Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.

Acta paediatrica (Oslo, Norway : 1992) - 1 May 2023

van den Udenhout Fleur, Merkus Peter, Verhaagen-van den Akker Sandra, Schouten Meyke, Erasmus Corrie, Braakman Hilde

Abstract excerpt

AIM: Respiratory insufficiency can be a presenting symptom of congenital myasthenic syndromes (CMS) but is rarely recognised as such. In this study, we aim to raise awareness of CMS to paediatricians. METHODS: We performed a retrospective case study of infants and preschool children treated in the past 5 years in Amalia Children's Hospital, Radboud University Medical Center in Nijmegen, the Netherlands for...

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PMID: 36718955
DOI: 10.1111/apa.16688

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