Table 3

Pathogenic MtDNA mutations associated with stroke-like episodes

MutationGeneReference
G1642AtRNA ValineTaylor et al 32
A3243GtRNA Leucine(UUR)Goto et al 4; Kobayashi et al 15
A3252GtRNA Leucine(UUR)Morten et al 29
C3256TtRNA Leucine(UUR)Satoet al 35
A3260GtRNA Leucine(UUR)Nishino et al 30
T3271CtRNA Leucine(UUR)Goto et al 27
T3291CtRNA Leucine(UUR)Gotoet al 28
A5814GtRNA CysteineManfredi et al 33
T9957CCOX IIIManfredi et al 36
A8344GtRNA LysineHammans et al 37
T7512CtRNA Serine(UCN)Nakamura et al 38
T8356CtRNA LysineZeviani et al 39
Single deletionCampos et al 34
Large scale tandem duplicationPoulton et al 40