Characterization of NEB Pathogenic Variants in Patients Reveals Novel Nemaline Myopathy Disease Mechanisms and Omecamtiv Mecarbil Force Effects

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
Nemaline Myopathy   NEB   Omecamtiv Mecarbil   Cryptic Splice-site   Muscle Function  

Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...