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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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| Опубликовано в: : | BMJ Case Rep |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
2018
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| Предметы: | |
| Online-ссылка: | 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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