ArticleCureus2023
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner. In this study, we present two cases of neonates admitted to a neonatal intensive care unit (NICU) exhibiting hypotonia, muscle weakness, and respiratory insufficiency. Both cases were diagnosed with congenital nemaline myopathy, with each patient displaying distinct mutations. This report highlights the clinical and genetic heterogeneity of this condition, emphasizing the importance of early recognition and genetic evaluation for accurate diagnosis and appropriate management of affected individuals.
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