Phenotypic diversity in an international Cure VCP Disease registry

BACKGROUND: Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The genotype-phenotype relationships in VCP-related MSP are still being defined; in...

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Detalles Bibliográficos
Autores principales: Ikenaga, Chiseko, Findlay, Andrew R., Seiffert, Michelle, Peck, Allison, Peck, Nathan, Johnson, Nicholas E., Statland, Jeffrey M., Weihl, Conrad C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523394/
https://www.ncbi.nlm.nih.gov/pubmed/32993728
http://dx.doi.org/10.1186/s13023-020-01551-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523394/
https://www.ncbi.nlm.nih.gov/pubmed/32993728
http://dx.doi.org/10.1186/s13023-020-01551-0

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