ArticleAmerican journal of medical genetics. Part A2017
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 20 citations in OpenAlex.
- Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Annals of neurology · 2025Article
- Birth-related long bone fractures in otherwise healthy newborns and medical professional liability: literature review and case presentation.Frontiers in medicine · 2025Article
- A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV.Children (Basel, Switzerland) · 2023Article
- Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.Journal of neuromuscular diseases · 2023Article
- Case Report: Prenatal Diagnosis of Nemaline Myopathy.Frontiers in pediatrics · 2022Article
- Compound Heterozygosity for Novel Truncating Variants in theFrontiers in genetics · 2019Article
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
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.
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