Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the dia...

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Detalles Bibliográficos
Autores principales: Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Ter Laak, Henk, Eshuis, L., Kusters, B., van Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041432/
https://www.ncbi.nlm.nih.gov/pubmed/36591657
http://dx.doi.org/10.3233/JND-221542

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