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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Ikenaga, Chiseko, Findlay, Andrew R., Seiffert, Michelle, Peck, Allison, Peck, Nathan, Johnson, Nicholas E., Statland, Jeffrey M., Weihl, Conrad C.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7523394/
https://ncbi.nlm.nih.gov/pubmed/32993728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01551-0
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