Journal article
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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Authors
Funding
Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Brain Journal website
- 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
Item Description
- 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
Terms of use
- Copyright holder:
- Rodríguez Cruz, PM et al
- Copyright date:
- 2019
- Notes:
- © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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