Leigh syndrome transmitted by uniparental disomy of chromosome 9.
Tiranti
V
V
Lamantea
E
E
Uziel
G
G
Zeviani
M
M
Gasparini
P
P
Marzella
R
R
Rocchi
M
M
Fried
M
M
D000782:Aneuploidy; D002899:Chromosomes, Human, Pair 9; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007888:Leigh Disease / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein; D003576:Electron Transport Complex IV