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Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a SCN4A-related myopathy based on genetic testing. After birth, floppiness, bradycardia and respiratory insufficiency ensued,...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462513/ https://www.ncbi.nlm.nih.gov/pubmed/36090556 http://dx.doi.org/10.3389/fped.2022.944784 |