Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
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 tha...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Wiley
2018
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