Congenital myopathies – centronuclear myopathies

Breakthrough advances have recently been achieved in therapy development in the neuromuscular disease field, based on promising preclinical data obtained in animal models. Generating reliable preclinical therapeutic data from validated animal models can significantly de-risk drug development by improving trust in the outcome from preclinical studies across study sites. Here we perform statistical analysis and a joint longitudinal-survival modelling of the progressive phenotype observed in Mtm1 −/y knock-out mice, a faithful model for myotubular myopathy, due to myotubularin 1 (MTM1) loss-of-function mutations.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Buono, A. Monseur, A. Menuet, A. Rob é, C. Koch, J. Laporte, L. Thielemans, M. Depla, B. Cowling Source Type: research