Hormones (Athens, Greece)
Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.
Labrini Papanastasiou, Eleftheria Kakargia, Amalia Sertedaki, Dimitrios P Bouklas, Metaxia Tampourlou, Christina Kanaka-Gantenbein, Athanasios Fountas, Αthina Markou
Published: 202510.1007/s42000-025-00730-7
Abstract
PURPOSE: Approximately 40% of pheochromocytomas and paragangliomas (PPGLs) are caused by germline mutations. MDH2 encodes the mitochondrial malate dehydrogenase, a Krebs cycle enzyme, which is essential for the conversion of malate to oxaloacetate an…
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