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• W2747589469 abstract "Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family. All exhibited perinatal fractures, and thus, a skeletal dysplasia was considered as possibly contributing to the phenotype. However, whole exome sequencing revealed a homozygous, loss‐of‐function pathogenic variant in LMOD3 , which has recently been associated with nemaline myopathy and, in a subset of patients, perinatal fractures. This case demonstrates the importance of considering congenital neuromuscular disorders in the differential diagnosis of perinatal fractures." @default.
• W2747589469 created "2017-08-31" @default.
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• W2747589469 date "2017-08-16" @default.
• W2747589469 modified "2023-10-18" @default.
• W2747589469 title "Neonatal fractures as a presenting feature of <i>LMOD3</i> ‐associated congenital myopathy" @default.
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• W2747589469 doi "https://doi.org/10.1002/ajmg.a.38383" @default.
• W2747589469 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5603416" @default.
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• W2747589469 hasPublicationYear "2017" @default.
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