Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy.
An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare:
- A preliminary analysis of the literature was carried out and distributed to the experts,
- This analysis was supplemented by an online survey of the same disease experts concerning their knowledge and practices,
- taking into account the arrival of high throughput sequencing (NGS) as a diagnostic tool.
The Cure-VCP-Disease patient association was heavily involved in the process.
