Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE

2019 ◽  
Author(s):  
Robert J. Marquardt ◽  
Yuebing Li
Keyword(s):  
Novel Mutation ◽  
Congenital Myasthenic Syndrome ◽  
Syndrome Type ◽  
Myasthenic Syndrome

scholarly journals Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

2015 ◽  
Vol 97 (6) ◽  
pp. 878-885 ◽  
Author(s):  
Clare V. Logan ◽  
Judith Cossins ◽  
Pedro M. Rodríguez Cruz ◽  
David A. Parry ◽  
Susan Maxwell ◽  
...  
Keyword(s):  
Collagen Type ◽  
Congenital Myasthenic Syndrome ◽  
Syndrome Type ◽  
Fibrillar Collagen ◽  
Myasthenic Syndrome

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome

2012 ◽  
Vol 316 (1-2) ◽  
pp. 112-115 ◽  
Author(s):  
Esther Leshinsky-Silver ◽  
Daniel Shapira ◽  
Keren Yosovitz ◽  
Mira Ginsberg ◽  
Tally Lerman-Sagie ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Congenital Myasthenic Syndrome ◽  
Myasthenic Syndrome

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20

2018 ◽  
Vol 28 (10) ◽  
pp. 881-884 ◽  
Author(s):  
J.M. Pardal-Fernández ◽  
M.C. Carrascosa-Romero ◽  
S. Álvarez ◽  
M.C. Medina-Monzón ◽  
M. Bengoa Caamaño ◽  
...  
Keyword(s):  
Congenital Myasthenic Syndrome ◽  
Syndrome Type ◽  
Severe Mutation ◽  
Myasthenic Syndrome

Author response for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

2019 ◽  
Author(s):  
Amna Al‐Futaisi ◽  
Faraz Ahmad ◽  
Ghalia Al‐Kasbi ◽  
Khalid Al‐Thihli ◽  
Roshan Koul ◽  
...  
Keyword(s):  
Author Response ◽  
Congenital Myasthenic Syndrome ◽  
Syndrome Type ◽  
Missense Mutations ◽  
Myasthenic Syndrome

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

2019 ◽  
Vol 97 (4) ◽  
pp. 666-667 ◽  
Author(s):  
Amna Al‐Futaisi ◽  
Faraz Ahmad ◽  
Ghalia Al‐Kasbi ◽  
Khalid Al‐Thihli ◽  
Roshan Koul ◽  
...  
Keyword(s):  
Congenital Myasthenic Syndrome ◽  
Syndrome Type ◽  
Missense Mutations ◽  
Myasthenic Syndrome
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