Cargando…
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1
Valosin-containing protein (VCP) gene mutations have been associated with a rare autosomal dominant, adult-onset progressive disease known as multisystem proteinopathy 1 (MSP1), or inclusion body myopathy (IBM), Paget’s disease of bone (PDB), frontotemporal dementia (FTD), (IBMPFD), and amyotrophic...
Autores principales: | Columbres, Rod Carlo Agram, Chin, Yue, Pratti, Sanjana, Quinn, Colin, Gonzalez-Cuyar, Luis F., Weiss, Michael, Quintero-Rivera, Fabiola, Kimonis, Virginia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048343/ https://www.ncbi.nlm.nih.gov/pubmed/36980948 http://dx.doi.org/10.3390/genes14030676 |
Ejemplares similares
-
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy
por: Shmara, Alyaa, et al.
Publicado: (2022) -
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis
por: Pfeffer, Gerald, et al.
Publicado: (2022) -
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
por: Roy, Bhaskar, et al.
Publicado: (2023) -
A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy
por: Llewellyn, Katrina J., et al.
Publicado: (2015) -
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
por: Inoue, Michio, et al.
Publicado: (2018)