Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation

BACKGROUND: We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant. CASE DESCRIPTION: The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experience...

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Detalles Bibliográficos
Autores principales: Jiang, Lan, Wang, Sheng-Cai, Zhang, Jie, Han, Fu-Gen, Zhao, Jing, Xu, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120818/
https://www.ncbi.nlm.nih.gov/pubmed/37091828
http://dx.doi.org/10.2147/PGPM.S398071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120818/
https://www.ncbi.nlm.nih.gov/pubmed/37091828
http://dx.doi.org/10.2147/PGPM.S398071

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