The DOI matches its Crossref record; 80 of the 80 references it cites were found in a registry or an index.
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment
Open accessAbstract
The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another.
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Metadata
- Authors
- Engel, A. G., Shen, X.-M., Selcen, D., & Sine, S. M.
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2015-04
- Volume
- 14
- Issue
- 4
- Pages
- 420-434
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2024473147
- Cited by
- 553
- References
- 80
- FWCI
- 32.60
- Type
- journal article
- Language
- en
- Open access
- green
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