TY - JOUR T1 - Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome JF - BMJ Case Reports DO - 10.1136/bcr-2018-226534 VL - 2018 SP - bcr-2018-226534 AU - Haris Younas AU - Ricardo Roda AU - Jonathan Jun Y1 - 2018/11/13 UR - http://casereports.bmj.com/content/2018/bcr-2018-226534.abstract N2 - 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, he required intubation followed by tracheostomy which resolved obstructive sleep apnoea. Later, due to persistent sleep-associated hypoventilation, he required nocturnal mechanical ventilation. His case illustrates how respiratory muscle weakness due to mutations in MuSK can lead to various forms of sleep disordered breathing. ER -