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Source: Acta Myologica
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Total 606 results found since Jan 2013.
VCP-related myopathy: a case series and a review of literature
We describe phenotypic and genetic findings of five patients with four different mutations in VCP gene (NM_007126): c.278G > A (p.R93H), c.463C > T (p.R155C), c.410C > T (p.P137L), c.464G > A (p.R155H), c.410C > T (p.P137L). We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the presence of proteins: p62, VCP, desmin, myotilin, TDP-43. Eventually we performed a brief literature review to compare our cases with those already reported. Our report strongly suggest that VCP gene mutations can be related with a predominant skeletal...
Source: Acta Myologica - April 24, 2023 Category: Neurology Authors: Eliana Iannibelli Sara Gibertini Marta Cheli Flavia Blasevich Andrea Cavaliere Giorgia Riolo Alessandra Ruggieri Lorenzo Maggi Source Type: research
