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Genes, Vol. 14, Pages 1393: NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Conclusion These data confirm the high genetic heterogeneity of hyperCKemia and metabolic myopathies. The reduced diagnostic yield suggests the existence of additional genes associated with this condition but also allows speculation that a significant number of cases presenting with hyperCKemia or muscle symptoms are due to extrinsic, not genetic, factors.
Source: Genes - July 2, 2023 Category: Genetics & Stem Cells Authors: Federica Invernizzi Rossella Izzo Isabel Colangelo Andrea Legati Nadia Zanetti Barbara Garavaglia Eleonora Lamantea Lorenzo Peverelli Anna Ardissone Isabella Moroni Lorenzo Maggi Silvia Bonanno Laura Fiori Daniele Velardo Francesca Magri Giacomo P. Comi D Tags: Article 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
