Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature-Reference-Cited by-同舟云学术

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Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature

Published:2024-06-04 Issue: Volume: Page:1-7
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Batheja Aashish¹,Bayer-Vile Julie²,Silverstein Evan³,Couser Natario²³⁴^ORCID

Affiliation:

1. School of Medicine, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

2. Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

3. Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

4. Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2352391

Reference50 articles.

1. Congenital myasthenic syndromes in adult neurology clinic

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

3. The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

4. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports

5. Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models;Otero-Cruz JD;P R Health Sci J,2010

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