Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy

Abstract Background VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body m...

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Détails bibliographiques
Auteurs principaux: Eiman Abdoalsadig, Merwa Hamid, Allison Peck, Leepakshi Johar, Virginia Kimonis
Format: Artigo
Langue:Inglês
Publié: BMC 2025-04-01
Collection:Orphanet Journal of Rare Diseases
Sujets:
VCP
Inclusion body myopathy
Paget’s disease of bone
Frontotemporal dementia (IBMPFD)
Amyotrophic lateral sclerosis (ALS)
Multisystem proteinopathy
Accès en ligne:https://doi.org/10.1186/s13023-025-03567-w
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