Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review

2016 ◽  
Vol 150 ◽  
pp. 41-45 ◽  
Author(s):  
Xinghua Luan ◽  
Wotu Tian ◽  
Li Cao
Keyword(s):  
Literature Review ◽  
Congenital Myasthenic Syndrome ◽  
Chinese Family ◽  
Novel Mutations ◽  
Myasthenic Syndrome

Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review

2021 ◽  
Vol 203 ◽  
pp. 106591
Author(s):  
Marco Fernandes ◽  
André Caetano ◽  
Miguel Pinto ◽  
Elmira Medeiros ◽  
Luís Santos
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Congenital Myasthenic Syndrome ◽  
Myasthenic Syndrome

Severe Case of Congenital Myasthenic Syndrome with Novel Mutations in MUSK

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
M. Giarrana ◽  
P. Joset ◽  
S. Robb ◽  
K. Steindl ◽  
A. Rauch ◽  
...  
Keyword(s):  
Severe Case ◽  
Congenital Myasthenic Syndrome ◽  
Novel Mutations ◽  
Myasthenic Syndrome

G.P.3 08 Novel mutations in the CHRNB1 gene in three patients affected by a congenital myasthenic syndrome

2006 ◽  
Vol 16 (9-10) ◽  
pp. 661 ◽  
Author(s):  
J.S. Müller ◽  
F. Hoellen ◽  
U. Schara ◽  
J. Johannsen ◽  
K. Bentele ◽  
...  
Keyword(s):  
Congenital Myasthenic Syndrome ◽  
Novel Mutations ◽  
Myasthenic Syndrome

scholarly journals COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome

2021 ◽  
pp. 1-3
Author(s):  
Setareh Alabaf ◽  
Karen O'Connell ◽  
Sithara Ramdas ◽  
David Beeson ◽  
Jacqueline Palace
Keyword(s):  
High Risk ◽  
Neuromuscular Transmission ◽  
Genetic Disorders ◽  
Severe Disease ◽  
Congenital Myasthenic Syndrome ◽  
Referral Centre ◽  
History Of ◽  
Myasthenic Syndrome ◽  
The Uk ◽  
Rare Group

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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