Journal article
Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
- Abstract:
-
The congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission. The number of cases recognized, at around 1:100,000 in the United Kingdom, is increasing with improved diagnosis. The advent of next‐generation sequencing has facilitated the discovery of many genes that harbor CMS‐associated mutations. An emerging group of CMS, characterized by a limb‐girdle pattern of muscle weakness, is caused by mutations in genes that encode proteins involved in the initial ...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Funding
Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- Annals of the New York Academy of Sciences Journal website
- Volume:
- 1413
- Issue:
- 1
- Pages:
- 163-169
- Place of publication:
- United States
- Publication date:
- 2018-01-24
- Acceptance date:
- 2017-11-14
- DOI:
- EISSN:
-
1749-6632
- ISSN:
-
0077-8923
- Pmid:
-
29363764
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
821316
- Local pid:
- pubs:821316
- Deposit date:
- 2020-02-17
Terms of use
- Copyright holder:
- New York Academy of Sciences
- Copyright date:
- 2018
- Rights statement:
- © 2018 New York Academy of Sciences.
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