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Article

Complex I deficiency: clinical features, biochemistry and molecular genetics.

Journal of medical genetics - 1 Sept 2012

Fassone Elisa, Rahman Shamima

Abstract excerpt

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic heterogeneity, leading to considerable diagnostic challenges for the clinician, not least because of the involvement of two genomes. The most prevalent clinical presentations include...

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PMID: 22972949
DOI: 10.1136/jmedgenet-2012-101159

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