Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy.
- The phenotype was globally very severe with an early onset and a high lethality.
- In addition to the presence of rods and cytoplasmic bodies, the researchers found abnormalities in the cell nuclei and in particular an increase in the perinuclear space.
- Cardiac alpha-actinin would play a compensatory role and attenuate the severity of the phenotype.
This study suggests other pathophysiological mechanisms at work in this congenital myopathy.
