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,...

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Detalles Bibliográficos
Autores principales: Berghold, Veronika M., Koko, Mahmoud, Berutti, Riccardo, Plecko, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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

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