Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.

doi:10.1016/j.nmd.2009.02.012

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Article

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.

Neuromuscular disorders : NMD - 1 May 2009

Stojkovic Tanya, Hammouda El Hadi, Richard Pascale, López de Munain Adolfo, Ruiz-Martinez Javier, Camaño Pilar, Gonzalez Pilar Camaño, Laforêt Pascal, Pénisson-Besnier Isabelle, Ferrer Xavier, Lacour Arnaud, Lacomblez Lucette, Claeys Kristl G, Maurage Claude-Alain, Fardeau Michel, Eymard Bruno

Abstract excerpt

We report the clinical, histological and genetic findings in 10 families (19 patients) presenting mutations in the valosin-containing protein (VCP). The mean age at onset was 42 years. The clinical pattern was characterized by an early involvement of the proximal upper limbs with scapular winging. Axial and lower limb muscles were often affected, whereas facial, oculobulbar muscles were spared. Ten patients were...

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PMID: 19364651
DOI: 10.1016/j.nmd.2009.02.012

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