Congenital myopathies 1 – nemaline

Nemaline myopathy (NM) is a genetically and clinically heterogenous neuromuscular disorder that can cause death or lifelong disability. Essentially all genes associated with NM are related to the sarcomeric thin filament. Therefore, studies of weakness in NM have focused primarily on issues of skeletal muscle structure and contractility. However, the genetic variability seen does not explain the significant phenotypic heterogeneity observed in NM patients or mouse models, suggesting that additional factors determine disease phenotype.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: J. Tinklenberg, R. Slick, J. Sutton, M. Prom, E. Ott, S. Danielson, M. Vanden Avond, M. Beatka, H. Meng, M. Grzybowski, J. Heisner, J. Ross, J. Ochala, K. Nowak, L. Zhang, A. Geurts, D. Stowe, F. Montanaro, M. Lawlor Source Type: research