Table 2 Summary of the NOTCH3 mutations and mitochondrial abnormalities detected in CADASIL patients
From: Absence of mtDNA mutations in leukocytes of CADASIL patients
Patient | Ethnicity | Notch3mutation detected | NS+ mtDNA sequence changes | Mitochondrial haplogroup Of CADASIL patients | Percentage of mitochondrial haplogroup in controls (n = 552) |
|---|---|---|---|---|---|
1 | Saudi | c.406 C> T | 14113 | M | 3.1% |
2 | Saudi | c.1568 C> T | 3851 | K | 4% |
3 | Kuwait | c.406 C> T | 14171 | N | 7.4% |
4 | Sudan | ND | 15048 | preHV1 | 17.9% |
5 | Yemen | c.475 C> T | 14966 | J | 21% |