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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 - March 31, 2023 Category: Neurology Authors: Eliana Iannibelli Sara Gibertini Marta Cheli Flavia Blasevich Andrea Cavaliere Giorgia Riolo Alessandra Ruggieri Lorenzo Maggi Source Type: research
Congenital myopathy associated with a novel mutation in < em > MEGF10 < /em > gene, myofibrillar alteration and progressive course
In conclusion, we found a new likely pathogenic mutation in MEGF10, which is responsible for a progressive form of mvEMARDD with myofibrillar alterations at muscle biopsy. Interestingly, the presence of MEGF10 mutations has not been reported in Italian population. Early diagnosis of MEGF10 myopathy is essential in light of recent results from in vivo testing demonstrating a potential therapeutic effect of SSRIs compounds.PMID:36349186 | PMC:PMC9628799 | DOI:10.36185/2532-1900-076
Source: Acta Myologica - November 9, 2022 Category: Neurology Authors: Carolina Croci Monica Traverso Serena Baratto Michele Iacomino Marina Pedemonte Francesco Caroli Marcello Scala Claudio Bruno Chiara Fiorillo Source Type: research
