A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

Congenital myasthenia syndrome (CMS) is a group of heterogeneous diseases affecting the neuromuscular endplate. CMS has a considerably different phenotypic presentations, with the onset time ranging from early infancy to late adulthood. Here, we report a case of a CMS due to a new DOK7 mutation in a...

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Detalles Bibliográficos
Autores principales: Alsallum, Mohammed S., Alshareef, Aysha, Abuzinadah, Ahmad R., Bamaga, Ahmed K., Dallol, Ashraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120944/
https://www.ncbi.nlm.nih.gov/pubmed/34027146
http://dx.doi.org/10.1016/j.heliyon.2021.e06869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120944/
https://www.ncbi.nlm.nih.gov/pubmed/34027146
http://dx.doi.org/10.1016/j.heliyon.2021.e06869

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