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Journal of Molecular Medicine (Berlin, Germany)|October 13, 2006
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial diseaseAnja Brinckmann, Klaus Rüther, Kathleen Williamson, et al.
Annals of Neurology|March 14, 2002
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutationMarkus Schuelke, Heiko Krude, Barbara Finckh, et al.
Annals of Neurology|November 26, 2002
Coenzyme Q-responsive Leigh's encephalopathy in two sistersLionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, et al.
European Journal of Pediatrics|May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndromeEva Morava, Rob Sengers, Henk Ter Laak, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Annals of Neurology|July 12, 2002
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiencyKnut Brockmann, Alf Bjornstad, Peter Dechent, et al.
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