Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
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DOI: 10.1016/j.ymgmr.2018.12.006
Abstract: Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I… read more here.
Keywords: pulmonary hypertension; foxred1 related; complex deficiency; related complex ... See more keywords