Article
Patient's dermal fibroblasts as disease markers for visceral myopathy.
Biomaterials advances - 1 May 2023
Viti Federica, Pramotton Francesca Micaela, Martufi Michela, Magrassi Raffaella, Pedemonte Nicoletta, Nizzari Mario, Zanacchi Francesca Cella, De Michele Benedetta, Alampi Manuela, Zambito Martina, Santamaria Giuseppe, Bajetto Adriana, Sardar Sabah, Tomati Valeria, Gandullia Paolo, Giampietro Costanza, Florio Tullio, Beltrame Francesco, Vassalli Massimo, Ceccherini Isabella
Abstract excerpt
Visceral myopathy (VSCM) is a rare genetic disease, orphan of pharmacological therapy. VSCM diagnosis is not always straightforward due to symptomatology similarities with mitochondrial or neuronal forms of intestinal pseudo-obstruction. The most prevalent form of VSCM is associates with variants in the gene ACTG2, encoding the protein gamma-2 actin. Overall, VSCM is a mechano-biological disorder, in which...
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