Researchers at the Institute of Myology* compiled clinical and genetic data from 13 patients who were found to have pathologic variants of the MYH2 gene:
- all presented with symptoms suggestive of slowly progressive myopathy, with variable age of onset, generally later than in cases already described in the literature;
- the patients were mainly from France, with a few from Germany and Canada;
- in no case was there any history of arthrogryposis or the presence of bordered vacuoles on muscle biopsy.
- The combination of ophthalmoparesis and muscle weakness in the girdles was the most common presentation.
- 15 new pathological variants of the MYH2 gene were identified, thus broadening the genotypic spectrum of this rare myopathy.
This work, coupled with an exhaustive analysis of the literature on the subject, will contribute to a better understanding of the natural history of this rare form of myosinopathy.
*Labella B, Brochier G, Beuvin M, Lacene E, Chanut A, Madelaine A, Labasse C, Romero NB, Evangelista T from the Morphological Unit headed by Teresinha Evangelista
Bassez G, Behin A, Villar-Quiles RN, Leonard-Louis S, Stojkovic T from the Nord-Est/Ile-de-France Neuromuscular Disease Reference Centre
Métay C from the Genetics and pathophysiology of neuromuscular disorders linked to the extracellular matrix and to the nucleus team headed by Gisèle Bonne & Valérie Allamand
