%0 Case Reports
%T Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.
%A Mohtisham F
%A Al Thaqafi M
%A Shawli A
%A Sallam A
%J Cureus
%V 15
%N 9
%D 2023 Sep
%M 37720117
暂无%R 10.7759/cureus.45197
%X 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.