Akbari, H.

mutation patient mitochondrial leigh syndrome leigh syndrome assembly genet i assembly 20orf c 20orf gene analysis c 20orf ficiency article cause protein patient iv 7 activity disease family mtdna patient iv 11 patients iv 7 c 20orf mutations cytochrome c oxidase smeet subunit defect isoform disorder i activity rustin p blood control jmg.bmj.com erasmus mc smeets r smeitink ja sample netherland smeets hj november downloaded sequence group.bmj.com iv 11 exon 5 synthase munnich smeitink ndufa dehydrogenase homozygosity oxidase rotig candidate moroccan c .477a mutation database identi sluiter mapping variant bn-page moroccan family basal ganglia department leucine skin fi broblasts heteroplasmic point mutations trijbels f region methyltransferase domain i assembly factor thorburn dr identi fication mutation analysis speci leigh disease