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Article

Phenotypic diversity in an international Cure VCP Disease registry.

Orphanet journal of rare diseases - 29 Sept 2020

Ikenaga Chiseko, Findlay Andrew R, Seiffert Michelle, Peck Allison, Peck Nathan, Johnson Nicholas E, Statland Jeffrey M, Weihl Conrad C

Abstract excerpt

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 order to understand this better, we investigated the phenotypic diversity and patterns of weakness in the Cure VCP...

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Identifiers

PMID: 32993728
DOI: 10.1186/s13023-020-01551-0
PMCID: PMC7523394

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