Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

Background and objectives: Congenital myasthenic syndromes (CMSs) are rare inherited diseases characterized by muscle weakness and fatigability on exertion resulting from defects in the neuromuscular junctions. Mutations in 32 genes have been reported as the underlying causes of CMS, with mutations...

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Detalles Bibliográficos
Autores principales: Almatrafi, Ahmad M., Alluqmani, Majed M., Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668953/
https://www.ncbi.nlm.nih.gov/pubmed/38001983
http://dx.doi.org/10.3390/biomedicines11112983

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668953/
https://www.ncbi.nlm.nih.gov/pubmed/38001983
http://dx.doi.org/10.3390/biomedicines11112983

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