A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report

Maya Soufan; Haya Soufan; Kushagra Chaudhari; Judith Klarr

doi:10.1055/a-2363-6319

American Journal of Perinatology Reports (Jul 2024)

A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report

Maya Soufan,
Haya Soufan,
Kushagra Chaudhari,
Judith Klarr

Affiliations

Maya Soufan: ORCiD; Department of Pediatrics, Corewell Health East Royal Oak, Royal Oak, Michigan
Haya Soufan: AlFaisal University College of Medicine, Riyadh, Saudi Arabia
Kushagra Chaudhari: Department of Pediatrics, Corewell Health East Royal Oak, Royal Oak, Michigan
Judith Klarr: Department of Neonatology, Corewell Health East Royal Oak, Royal Oak, Michigan

DOI: https://doi.org/10.1055/a-2363-6319
Journal volume & issue: Vol. 14, no. 03
pp. e193 – e196

Abstract

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Congenital myasthenia gravis syndrome (CMS) is a rare genetic heterogeneous disorder due to abnormal neuromuscular transmission caused by several genes. CMS caused by choline acetyltransferase (ChAT) gene mutations have been reported in 53 cases since 2020, and only three of them have been identified as hemizygous mutations.

Published in American Journal of Perinatology Reports

ISSN: 2157-6998 (Print); 2157-7005 (Online)
Publisher: Thieme Medical Publishers, Inc.
Country of publisher: United States
LCC subjects: Medicine: Gynecology and obstetrics
Website: https://doi.org/10.1055/s-00000169

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