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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

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