Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.

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Title: Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.
Authors: Alshamrani, Foziah J.1,2 (AUTHOR), Alajmi, Modhi S.1 (AUTHOR), Almuslim, Nora I.1 (AUTHOR) nmuslim@iau.edu.sa, Alsubaie, Muneerah M.3 (AUTHOR), Fardan, Ghadeer M.1 (AUTHOR), Alabdali, Majed M.1,2 (AUTHOR)
Source: Journal of Family & Community Medicine. Jan-Mar2026, Vol. 33 Issue 1, p47-52. 6p.
Database: Academic Search Ultimate
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ISSN:22308229
DOI:10.4103/jfcm.jfcm_322_25