Associated Papers
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 2023
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M et al.
Acta Neuropathologica Communications, 2022
36476314 (PubMed )
Supplement: 40478_2022_1482_MOESM1_ESM.xlsx › Sheet1
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
Pfeffer G et al.
Genes, 2022
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.
Inoue M et al.
Human Genome Variation, 2018
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