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Article

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Neuromuscular disorders : NMD - 1 May 2010

Kumar Kishore R, Needham Merrilee, Mina Kym, Davis Mark, Brewer Janice, Staples Christopher, Ng Karl, Sue Carolyn M, Mastaglia Frank L

Abstract excerpt

We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the...

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Source

Identifiers

PMID: 20335036
DOI: 10.1016/j.nmd.2010.03.002

Genes

VCP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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