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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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| Publicat a: | Heliyon |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8120944/ https://ncbi.nlm.nih.gov/pubmed/34027146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heliyon.2021.e06869 |
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