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Mutational classification in relation to various clinical indices.
| 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) |
The number of cases is in parentheses.
