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Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review
Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also obser...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503874/ https://www.ncbi.nlm.nih.gov/pubmed/37720117 http://dx.doi.org/10.7759/cureus.45197 |