The congenital myasthenic syndromes.

Journal of Neuroimmunology
Jackie Palace, David Beeson

Abstract

The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined. Although each syndrome results from defective synaptic transmission at the neuromuscular junction, the patients show a variable set of phenotypes. Here, we provide a brief clinical review.

References

Aug 5, 1998·Proceedings of the National Academy of Sciences of the United States of America·K OhnoA G Engel
Feb 15, 2001·Proceedings of the National Academy of Sciences of the United States of America·K OhnoA G Engel
May 18, 2004·Neuromuscular Disorders : NMD·G BurkeD Beeson
Oct 22, 2004·Human Molecular Genetics·Frédéric ChevessierDaniel Hantaï
Feb 11, 2005·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·N BarisicA Abicht
May 24, 2005·Current Opinion in Pharmacology·Andrew G Engel, Steven M Sine
Aug 19, 2006·Science·David BeesonYuji Yamanashi
Apr 19, 2007·Brain : a Journal of Neurology·Juliane S MüllerHanns Lochmüller
Apr 25, 2007·Brain : a Journal of Neurology·Jacqueline PalaceDavid Beeson
Jan 9, 2008·Brain : a Journal of Neurology·Violeta MihaylovaHanns Lochmüller

❮ Previous
Next ❯

Citations

Jun 18, 2010·International Journal of Pediatric Otorhinolaryngology·Chris G JephsonC Martin Bailey
Nov 11, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ulrike ScharaHanns Lochmüller
Oct 20, 2009·Neuromuscular Disorders : NMD·U ScharaH Lochmüller
Nov 23, 2010·Developmental Medicine and Child Neurology·Matthew Pitt
Jan 1, 2014·Muscle & Nerve·Ioannis KarakisPeter B Kang
Oct 24, 2012·Chemico-biological Interactions·Jennifer KarmouchClaire Legay
Mar 1, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Sarah FinlaysonDavid Beeson
Jun 5, 2016·Brain : a Journal of Neurology·Emily O'ConnorHanns Lochmüller
May 6, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Pedro M Rodríguez CruzDavid Beeson
Dec 18, 2014·The Cochrane Database of Systematic Reviews·Charlotte VrintenJan J G M Verschuuren
Apr 13, 2010·Autoimmunity·M Isabel LeiteAngela Vincent
Jun 8, 2018·International Journal of Molecular Sciences·Pedro M Rodríguez CruzDavid Beeson
Oct 12, 2014·Journal of Neurology·Pedro M Rodríguez CruzDavid Beeson
Nov 20, 2016·Journal of Neuromuscular Diseases·Lenie van den Engel-HoekCorrie E Erasmus
Jan 31, 2018·Annals of the New York Academy of Sciences·Manon LeeJacqueline Palace
Mar 18, 2021·The FEBS Journal·Julliane V Joviano-SantosCristina Guatimosim
Jun 15, 2021·Journal of Neuromuscular Diseases·Setareh AlabafJacqueline Palace

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Annals of the New York Academy of Sciences
David BeesonAngela Vincent
Journal of Molecular Neuroscience : MN
Andrew G EngelS M Sine
Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Andrew G Engel
© 2022 Meta ULC. All rights reserved