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...

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Detalles Bibliográficos
Autores principales: Mohtisham, Farzeen, Althagafi, Maram, Shawli, Aiman, Sallam, Adel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
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

Internet

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

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