Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0037315 (
sleep apnea
)
8,000
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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
.
...
PMID:Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome. 3042 33
