A family with Leigh syndrome caused by the rarer T8993C mutation.
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
A
A
Chakrapani
L
L
Heptinstall
J
J
Walter
D003596:Cytosine; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D006180:Proton-Translocating ATPases / Q000235:genetics; D013941:Thymine
D004272:DNA, Mitochondrial; D003596:Cytosine; D006180:Proton-Translocating ATPases; D013941:Thymine