Article
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.
Orphanet journal of rare diseases - 23 Apr 2026
Leoni Chiara, Viscogliosi Germana, Pajalunga Deborah, Trevisan Valentina, Mondelli Ludovica, Angeli Maria Luigia, Gullì Consolato, Tatti Massimo, Perri Lucrezia, Bellani Iacopo, Lentini Nicolò, Pastorino Roberta, Kuczynska Eliza, Gervasoni Jacopo, Romeo Domenico Marco Maurizio, Pane Marika, Mercuri Eugenio Maria, Cecchetti Serena, Carpentieri Giovanna, Tartaglia Marco, Zampino Giuseppe, Flex Elisabetta
Abstract excerpt
BACKGROUND: Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway. Among its multisystemic manifestations, a distinctive musculoskeletal involvement is frequently observed with reduction in muscle force, pain of musculoskeletal origin and muscular hypotrophy....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.