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...

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Vydáno v:BMJ Case Rep
Hlavní autoři: Younas, Haris, Roda, Ricardo, Jun, Jonathan
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2018
Témata:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
On-line přístup: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
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