Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype

2021 ◽  
Vol 31 ◽  
pp. 54-60
Author(s):  
Kiran Polavarapu ◽  
Seena Vengalil ◽  
Veeramani Preethish-Kumar ◽  
Gautham Arunachal ◽  
Saraswati Nashi ◽  
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Keyword(s):  
Clinical Phenotype ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

Neurology ◽  
2009 ◽  
Vol 73 (22) ◽  
pp. 1926-1928 ◽  
Author(s):  
V. Mihaylova ◽  
M.A.M. Salih ◽  
M. M. Mukhtar ◽  
H. A. Abuzeid ◽  
S. M. El-Sadig ◽  
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Keyword(s):  
Clinical Phenotype ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Genetic analysis of congenital myasthenic syndromes (CMS)

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
A Abicht ◽  
JS Müller ◽  
SK Baumeister ◽  
U Schara ◽  
A Hübner ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes

2019 ◽  
Vol 29 (4) ◽  
pp. 290-295
Author(s):  
Ceren Günbey ◽  
Kutay Sel ◽  
Çağrı Mesut Temuçin ◽  
Hayrettin Hakan Aykan ◽  
Bahadır Konuşkan ◽  
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Keyword(s):  
Autonomic Function ◽  
Adult Patients ◽  
Function Evaluation ◽  
Cardiac Autonomic Function ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

P5.16 Pregnancy outcome in congenital myasthenic syndromes

2011 ◽  
Vol 21 (9-10) ◽  
pp. 728 ◽  
Author(s):  
H. Bauduin ◽  
L. Servais ◽  
P. Richard ◽  
D. Sternberg ◽  
E. Fournier ◽  
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Pregnancy Outcome ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Novel congenital myasthenic syndromes associated with defects in quantal release

Neurology ◽  
2006 ◽  
Vol 66 (8) ◽  
pp. 1223-1229 ◽  
Author(s):  
M. Milone ◽  
T. Fukuda ◽  
X. M. Shen ◽  
A. Tsujino ◽  
J. Brengman ◽  
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Keyword(s):  
Quantal Release ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

2012 ◽  
Vol 33 (10) ◽  
pp. 1474-1484 ◽  
Author(s):  
Angela Abicht ◽  
Marina Dusl ◽  
Constanze Gallenmüller ◽  
Velina Guergueltcheva ◽  
Ulrike Schara ◽  
...  
Keyword(s):  
Gene Sequencing ◽  
Congenital Myasthenic Syndromes ◽  
Diagnostic Practice ◽  
Myasthenic Syndromes
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