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Title: Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
Authors: 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
Maurage, Claude-Alain
Fardeau, Michel
Eymard, Bruno #
Issue Date: May-2009
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:19 issue:5
Article number: 10.1016/j.nmd.2009.02.012
Abstract: 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 wheelchair bound after a mean disease course of 9 years and six patients required canes for walking. Two patients required mechanically assisted ventilation and seven patients had reduced vital capacity. There was no cardiac involvement. Paget's disease of bone was observed in eight patients and cognitive impairment in nine patients. Seven patients died as a consequence of weakness and respiratory distress. Muscle biopsy showed rimmed vacuolar myopathy. Genetic analysis revealed missense heterozygous mutations mostly located in exon 5 of the VCP gene, four of which were not previously reported. We observed intrafamilial and interfamilial variability in terms of severity, distribution of weakness and presence or not of Paget's disease or cognitive impairment.
URI: 
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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