Table 1 The frequency and ethnic distribution of the 6 most common ETFDH mutations among 381 reported cases of MADD with a proven ETFDH mutation
ETFDH | Homozygous | Heterozygous | Population | Total cases | Percentage |
|---|---|---|---|---|---|
c.250G > A | 59 | 48 | Chinese/Asian | 107 | 28.1% |
c.770A > G | 4 | 45 | Chinese/Asian | 49 | 12.9% |
c.1227A > C | 1 | 33 | Chinese | 34 | 8.9% |
c.1130 T > C | 24 | 0 | Turkish | 24 | 6.3% |
c.389 A > T | 0 | 22 | Chinese | 22 | 5.8% |
c.1367C > T | 4 | 5 | Caucasians/Japanese | 9 | 2.4% |