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Phenotypic diversity in an international Cure VCP Disease registry

Abstract 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 defi...

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Principais autores: Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland, Conrad C. Weihl
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-09-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Cure VCP disease patient registry
Multisystem proteinopathy
Valosin-containing protein
Online adgang:http://link.springer.com/article/10.1186/s13023-020-01551-0
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