Associated Papers
Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE.
Marquardt RJ et al.
Muscle & Nerve, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM et al.
Brain : a Journal of Neurology, 2019
Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.
Beeson D et al.
Annals of the New York Academy of Sciences, 2018
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV et al.
American Journal of Human Genetics, 2015
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