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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Abstract:

Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. Here, we report the phenotypic spectrum of 16 patients from 11 kinships harbouring homozyg...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/brain/awz107

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Name:
Medical Research Council
Grant:
MR/M006824/1
Publisher:
Oxford University Press
Journal:
Brain More from this journal
Volume:
142
Issue:
6
Pages:
1547-1560
Publication date:
2019-05-13
Acceptance date:
2019-02-22
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Pmid:
31081514
Language:
English
Keywords:
Pubs id:
pubs:998849
UUID:
uuid:0607d759-2e0f-42ca-adeb-121d484bb0cb
Local pid:
pubs:998849
Source identifiers:
998849
Deposit date:
2019-07-03

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