The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies

Current Opinion in Neurology
An E Vanhaesebrouck, David Beeson

Abstract

Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improved treatment strategies. As next-generation sequencing is taken into the clinic, its use is both continuing to unearth new causative genes in which mutations underlie CMS and also broadening the phenotypic spectrum for known CMS genes. The number of genes in which mutations may cause neuromuscular transmission defects has now passed 30. The defective transmission may be part of an overall more complex phenotype in which there may be muscle, central nervous system or other involvement. Notably, mutations in series of genes encoding proteins located in the presynatic motor bouton have been identified. Rare cases of mutations in basal laminar proteins of the synaptic cleft are coming to light and additional mutations/phenotypic features have been located in some of the larger neuromuscular junction proteins such as AGRN and MUSK, where previously mutation screening by sanger sequencing was time consuming and costly. Finally, there are mo...Continue Reading

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Dec 7, 2019·Clinical Genetics·Amna Al-FutaisiAlmundher Al-Maawali
Jul 16, 2020·Journal of Veterinary Internal Medicine·Thomas MignanMark Lowrie
Jun 4, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Andoni Echaniz-LagunaRoope Männikkö
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Jun 19, 2021·Frontiers in Neurology·Federica Rachele DantiGiovanna Zorzi
Aug 27, 2021·Internal Medicine·Ping XiaWen Lv

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Methods Mentioned

BETA
PCR
glycosylation

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