From: Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion
Cohorts
M.3243 A > G, m.8993 T > C/G, m.8344 A > G
mtDNA deletion
IG NGS (51 genes)
ASD NGS (101 genes)
ASD cases (n = 60)
✔
✔a
Healthy controls (n = 60)
✔b
mtdel-MD (n = 7)
–