Abstract |
Congenital myasthenia syndromes are rare but often treatable conditions affecting neuromuscular transmission. They result from loss or impaired function of one of a number of proteins secondary to a genetic defect. An estimate of the prevalence in the UK gave 9.2 cases per million, however, this is likely an underestimate since the adoption of next generation sequencing for diagnosis away from specialist centres is enhancing the 'pick up' rate. Next generation sequencing has helped identify a series of novel genes that harbour mutations causative for congenital myasthenic syndrome that include not only genes that encode proteins specifically expressed at the neuromuscular junction but also those that are ubiquitously expressed. The list of genes harbouring disease-causing mutations for congenital myasthenic syndrome continues to expand and is now over 30, but with many of the newly identified genes it is increasingly being recognised that abnormal neuromuscular transmission is only one component of a multifaceted phenotype in which muscle, the central nervous system, and other organs may also be affected. Treatment can be tailored to the underlying molecular mechanism for impaired neuromuscular transmission but treating the more complex multifaceted disorders and will require development of new therapies.
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Authors | Sithara Ramdas, David Beeson |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 31
Issue 10
Pg. 943-954
(10 2021)
ISSN: 1873-2364 [Electronic] England |
PMID | 34736634
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Copyright | Copyright © 2021. Published by Elsevier B.V. |
Topics |
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation
- Myasthenic Syndromes, Congenital
(genetics)
- Neuromuscular Junction
(metabolism)
- Phenotype
- Synaptic Transmission
(genetics)
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