Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome

In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase (MuSK, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. In the intensive care unit...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:BMJ Case Rep
Autores principales: Younas, Haris, Roda, Ricardo, Jun, Jonathan
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2018
Materias:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6254377/
https://ncbi.nlm.nih.gov/pubmed/30429133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-226534
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares