Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
por: Pinto, Marcus V., et al.
Publicado: (2019) -
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
por: Maselli, Ricardo A., et al.
Publicado: (2010) -
A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
por: Shen, Yanhua, et al.
Publicado: (2020) -
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018) -
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2019)