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Miguel Molina Berenguer, Investigador del Grup de Recerca en Patologia Neuromuscular i Mitocondrial
L'hepatoencefalopatia deguda a la deficiència de fosforilació oxidativa combinada tipus 1 (COXPD1) és un trastorn de la traducció mitocondrial recessiu causat per mutacions en GFM1, un gen nuclear que codifica el factor d'allargament mitocondrial G1 (EFG1). Els pacients amb COXPD1 solen presentar hepatoencefalopatia aviat després del naixement amb una progressió ràpida de la malaltia i solen morir durant les primeres setmanes o anys de vida.
Amfitrió: Dr. Ramón Martí Seves, Cap del grup de Patologia Neuromuscular i Mitocondrial
Format: Accés gratuït i presencial.
En línia: https://gencat.zoom.us/j/94088176658
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