Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit-Reference-Cited by-同舟云学术

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Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Published:2019-09-27 Issue:10 Volume:6 Page:2066-2078
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Shen Xin‐Ming¹^ORCID,Milone Margherita¹,Wang Hang‐Long²,Banwell Brenda³,Selcen Duygu¹,Sine Steven M.⁴⁵⁶,Engel Andrew G.¹

Affiliation:

1. Department of Neurology and Neuromuscular Research Laboratory Mayo Clinic Rochester Minnesota

2. Department of Neurology and Vesicular Biology Laboratory Mayo Clinic Rochester Minnesota

3. Division of Neurology Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania

4. Department of Physiology and Biomedical Engineering and Receptor Biology Laboratory Mayo Clinic Rochester Minnesota

5. Department of Pharmacology and Experimental Therapeutics Mayo Clinic Rochester Minnesota

6. Department of Neurology Mayo Clinic Rochester Minnesota

Funder

Myasthenia Gravis Foundation of America

National Institutes of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50902

Reference41 articles.

1. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

2. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

3. MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

4. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

5. Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome

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1. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit;Journal of Neuromuscular Diseases;2024-09-03

2. Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia;Annals of Clinical and Translational Neurology;2023-03-09

3. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13

4. Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases;Journal of Neuromuscular Diseases;2022-07-01

5. Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine;Acta Neurologica Belgica;2020-10-08

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