Table 2.
Number of PMM2 mutations identified in population cohort (2,244 individuals) and the diagnosed five patients (three families)
| Mutation | Population cohort | Patients |
|---|---|---|
| p.V67M | 1 | – |
| p.R141H | 10 | 1 |
| p.V231M | 5 | 3 |
| p.T237R | 1 | – |
| p.R239W | 2 | 1 |
| p.R123Q | – | 1 |
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