Congenital myopathies 1 – nemaline

Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. Despite multiple genes and known mutations, the genetic heterogeneity of NM is not predictive of disease course, which suggests that unidentified secondary mechanisms exist that impact disease severity. We hypothesize that currently undetermined biological processes play a role in the muscle weakness of NM patients and that these can be revealed by examining disease signatures of NM mouse models.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. Slick, J. Tinklenberg, H. Meng, M. Beatka, M. Prom, E. Ott, F. Montanaro, L. Zhang, H. Granzier, E. Hardeman, A. Geurts, M. Lawlor Source Type: research