Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
Vilarinho
L
L
Clinical Biology, Instituto Jacinto Magalhaes, Porto, Portugal.
Barbot
C
C
Carrozzo
R
R
Calado
E
E
Tessa
A
A
Dionisi-Vici
C
C
Guimarães
A
A
Santorelli
F M
FM
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000255:Adenosine Triphosphate / Q000096:biosynthesis; D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008564:Membrane Potentials / Q000235:genetics; D017354:Point Mutation
D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate; D000251:Adenosine Triphosphatases