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...

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Detalles Bibliográficos
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:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048343/
https://www.ncbi.nlm.nih.gov/pubmed/36980948
http://dx.doi.org/10.3390/genes14030676

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