Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.
de Coo
I F
IF
Smeets
H J
HJ
Gabreëls
F J
FJ
Arts
N
N
van Oost
B A
BA
D001259:Ataxia / Q000235:genetics*; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009132:Muscles / Q000737:chemistry; D017354:Point Mutation
D004272:DNA, Mitochondrial