Genetic basis and phenotypic features of congenital myasthenic syndromes

Handbook of Clinical Neurology
Andrew G Engel

Abstract

The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. The disease proteins reside in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region, or at multiple sites at the neuromuscular junction as well as in other tissues. Targeted mutation analysis by Sanger or exome sequencing has been facilitated by characteristic phenotypic features of some CMS. No fewer than 20 disease genes have been recognized to date. In one-half of the currently identified probands, the disease stems from mutations in genes encoding subunits of the muscle form of the acetylcholine receptor (CHRNA1, CHRNB, CHRNAD1, and CHRNE). In 10-14% of the probands the disease is caused by mutations in RAPSN, DOK 7, or COLQ, and in 5% by mutations in CHAT. Other less frequently identified disease genes include LAMB2, AGRN, LRP4, MUSK, GFPT1, DPAGT1, ALG2, and ALG 14 as well as SCN4A, PREPL, PLEC1, DNM2, and MTM1. Identification of the genetic basis of each CMS is important not only for genetic counseling and disease prevention but also for therapy, because therapeutic agents that benefit one type of CMS can be harmful in ano...Continue Reading

Citations

Mar 15, 2019·American Journal of Medical Genetics. Part a·Laura Carrera-GarcíaAndres Nascimento
Apr 2, 2019·Emerging Topics in Life Sciences·Rachel ThompsonHanns Lochmüller
Jul 14, 2020·Expert Review of Molecular Diagnostics·Vinojini VivekanandamMichael G Hanna
Nov 28, 2018·Orphanet Journal of Rare Diseases·Rachel ThompsonHanns Lochmüller
Dec 6, 2018·Frontiers in Pharmacology·Günter GisselmannHanns Hatt
Apr 9, 2020·Frontiers in Molecular Neuroscience·Jolene Chang RudellMichael Ferns
Mar 8, 2019·The Journal of Cell Biology·Julien OurySteven J Burden
Nov 5, 2020·Muscle & Nerve·Isabella HermanTimothy E Lotze
Jan 21, 2021·Journal of Child Neurology·Devin E Prior, Partha S Ghosh
Dec 10, 2020·American Journal of Medical Genetics. Part a·Amanda S FreedJames T Bennett
Mar 6, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Marie-Céline François-HeudeClaude Cances
Mar 7, 2021·International Journal of Molecular Sciences·Bisei OhkawaraKinji Ohno
Dec 6, 2020·Neurology·Brian D Stephens, Min K Kang
Jun 3, 2021·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Michael Ferns
Mar 27, 2021·Physiological Reviews·Massimo MantegazzaWilliam A Catterall
Oct 9, 2021·Der Nervenarzt·Andrea GangfußAndreas Roos

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