Filtered By:
Source: Acta Myologica
This page shows you your search results in order of date. This is page number 9.
Order by Relevance | Date
Total 606 results found since Jan 2013.
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
