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| Mutation | % Males | % Females | Enzyme Activity | Age of Clinical Onset | Max. Blood Lactate | % Alive | % Deceased |
|---|---|---|---|---|---|---|---|
| Missense | 62.7 (96) | 36.3 (57) | 37.8 ± 35.20 (142) | 7.78 ± 12.90 (111) | 7.81 ± 5.70 (95) | 65.6 (86) | 34.3 (45) |
| Frameshift | 38.6 (27) | 61.4 (43) | 32.7 ± 29.30 (64) | 3.60 ± 7.70 (47) | 7.41 ± 4.20 (35) | 63.5 (33) | 36.5 (19) |
Number of cases in parentheses.
