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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

From: Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

ETFDHHomozygousHeterozygousPopulationTotal casesPercentage
c.250G > A5948Chinese/Asian10728.1%
c.770A > G445Chinese/Asian4912.9%
c.1227A > C133Chinese348.9%
c.1130 T > C240Turkish246.3%
c.389 A > T022Chinese225.8%
c.1367C > T45Caucasians/Japanese92.4%