Functional characterisation of a mouse model of DOK7 congenital myasthenic syndrome and response to treatment with salbutamol

2018 ◽  
Vol 28 ◽  
pp. S26-S27
Author(s):  
R.G. Webster ◽  
A.E. Vanhaesebrouck ◽  
S.E. Maxwell ◽  
J.A. Cossins ◽  
D.M.W. Beeson
2012 ◽  
Vol 45 (3) ◽  
pp. 851-861 ◽  
Author(s):  
Frédéric Chevessier ◽  
Christoph Peter ◽  
Ulrike Mersdorf ◽  
Emmanuelle Girard ◽  
Eric Krejci ◽  
...  

2019 ◽  
Vol 60 (6) ◽  
pp. 790-800
Author(s):  
Luana Pereira Leite Schetino ◽  
Matheus Fonseca ◽  
Matheus Proença Simão Magalhães Gomes ◽  
Priscila Aparecida Costa Valadão ◽  
Wallace Lucio Camargo ◽  
...  

2021 ◽  
pp. 1-3
Author(s):  
Setareh Alabaf ◽  
Karen O'Connell ◽  
Sithara Ramdas ◽  
David Beeson ◽  
Jacqueline Palace

Congenital Myasthenic Syndrome (CMS) are a rare group of genetic disorders of neuromuscular transmission. Some subtypes of CMS can be associated with respiratory and bulbar weakness and these patients may therefore be at high risk of developing a severe disease from COVID-19. We screened 73 patients with genetically confirmed CMS who were attending the UK national referral centre for evidence of previous Severe Acute Respiratory Syndrome Corona Virus 2 infection and their clinical outcome. Of 73 patients, seven had history of confirmed COVID-19. None of the infected patients developed a severe disease, and there were no signals that CMS alone carries a high risk of severe disease from COVID-19.


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