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

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Bibliographic Details
Published in:Muscle & nerve 2019-07, Vol.60 (1), p.E3-E4
Main Authors: Marquardt, Robert J., Li, Yuebing
Format: Article
Language:English
Subjects:
COL13A1
Collagen
congenital myasthenic syndrome
loss of function mutation
Mutation
neuromuscular junction
neuromuscular transmission
ptosis
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ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26494