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Article

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.

Clinical neurology and neurosurgery - 1 Sept 2023

Leccese Deborah, Rodolico Gabriele Rosario, Sperti Martina, Cassandrini Denise, Bartolini Marco, Ingannato Assunta, Nacmias Benedetta, Bracco Laura, Malandrini Alessandro, Santorelli Filippo Maria, Bessi Valentina, Matà Sabrina

Abstract excerpt

OBJECTIVE: Mutations in the valosin-containing protein (VCP) gene cause autosomal dominant multisystem proteinopathy 1 (MSP1), characterized by a variable combination of inclusion body myopathy (IBM), Paget's disease of bone (PDB), and frontotemporal dementia (FTD). Here we report a novel VCP missense mutations in an Italian family with FTD as the prevalent manifestation and compare our results with those...

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Identifiers

PMID: 37441929
DOI: 10.1016/j.clineuro.2023.107875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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