Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2022
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.
Alshamrani FJ et al.
Journal of Family & Community Medicine, 0
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