Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure.
Mak
S C
SC
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, ROC.
Chi
C S
CS
Tsai
C R
CR
D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics*
D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases