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Article

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Neuromuscular disorders : NMD - 1 Aug 2011

Palmio Johanna, Sandell Satu, Suominen Tiina, Penttilä Sini, Raheem Olayinka, Hackman Peter, Huovinen Sanna, Haapasalo Hannu, Udd Bjarne

Abstract excerpt

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. We report a new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected members in three generations. Patients had onset of distal leg muscle weakness and atrophy in the anterior compartment muscles after age 35, which caused a foot drop...

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Identifiers

PMID: 21684747
DOI: 10.1016/j.nmd.2011.05.008

Genes

VCP

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