Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
American journal of medical genetics. Part A - 1 Oct 2017
Abbott Megan, Jain Mahim, Pferdehirt Rachel, Chen Yuqing, Tran Alyssa, Duz Mehmet B, Seven Mehmet, Gibbs Richard A, Muzny Donna, Lee Brendan, Marom Ronit, Burrage Lindsay C
Abstract excerpt
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...
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