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Inés Loreto Gallán Farina

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Open access Oct 2026

A novel variant of MIEF2 gene expands the clinical spectrum of combined oxidative phosphorylation deficiency 49

Combined oxidative phosphorylation deficiency (COXPD) encompasses a highly heterogeneous group of inherited mitochondrial disorders characterized by a fundamental defect in cellular energy production. Combined oxidative phosphorylation deficiency type 49 (COXPD49) is an ultra-rare subtype caused by mutations in the...

Inés Loreto Gallán Farina, Ignacio Aparicio del Río, Silvia Izquierdo Álvarez et al. · 0 citations

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