Congenital Myasthenic Syndromes in 2012

Overview

Journal Curr Neurol Neurosci Rep

Specialty Neurology

Date 2011 Oct 15

PMID 21997714

Citations 12

Authors

Andrew G Engel

Affiliations

Soon will be listed here.

Abstract

Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor endplate. The disease proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na(v)1.4, muscle-specific kinase, agrin, β2-laminin, downstream of tyrosine kinase 7, and glutamine-fructose-6-phosphate transaminase 1. Analysis of electrophysiologic and biochemical properties of mutant proteins expressed in heterologous systems have contributed crucially to defining the molecular consequences of the observed mutations and have resulted in improved therapy of most CMS.

Citing Articles

When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.

Mendpara V, Bethanabotla S, Yadav M, Kanisetti V, Singh G, Das A Cureus. 2023; 15(5):e38842.

PMID: 37303354 PMC: 10256249. DOI: 10.7759/cureus.38842.

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.

Liao X, Wang Y, Lai X, Wang S Biomol Biomed. 2023; 23(5):772-784.

PMID: 36815443 PMC: 10494853. DOI: 10.17305/bb.2022.8641.

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.

Gomez-Garcia De la Banda M, Simental-Aldaba E, Fahmy N, Sternberg D, Blondy P, Quijano-Roy S Front Neurol. 2022; 13:909715.

PMID: 35720108 PMC: 9201482. DOI: 10.3389/fneur.2022.909715.

A novel mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members.

Alsallum M, Alshareef A, Abuzinadah A, Bamaga A, Dallol A Heliyon. 2021; 7(5):e06869.

PMID: 34027146 PMC: 8120944. DOI: 10.1016/j.heliyon.2021.e06869.

Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.

Ohkawara B, Shen X, Selcen D, Nazim M, Bril V, Tarnopolsky M JCI Insight. 2020; 5(7).

PMID: 32271162 PMC: 7205260. DOI: 10.1172/jci.insight.132023.

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