Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

ABSTRACT: De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and rarity of BAG3-neuromuscular diseases (NMDs), series of patients are lacking. Our aim was to characterize the clinical and genetic spectrum, in addition to the natural history of BAG3-NMDs in Europe. In this multicentre retrospective study, we collected clinical, ancillary and genetic data of patients with NMD and BAG3 variants, identified from European paediatric and adult neuromuscular reference centres from May to December 2023 following a call circulated through the European Reference Network EURO-NMD and other partners. Responses were received from 35

SUBMITTER: Fernandez-Eulate G 

PROVIDER: S-EPMC12678052 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature