De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
Takahashi
S
S
Makita
Y
Y
Oki
J
J
Miyamoto
A
A
Yanagawa
J
J
Naito
E
E
Goto
Y
Y
Okuno
A
A
D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial