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Summary of OPA1 mutations and molecular profile identified in patients with DOA+ phenotypes
|
OPA1 mutations |
|||||
|---|---|---|---|---|---|
| Missense | Nonsense | Splice site | Deletion | ||
| DOA + patients | n | 80 | 3 | 8 | 13 |
| COX-deficiencya | − | 1 | – | 3 | 2 |
| + | 17 | 1 | 2 | 2 | |
| MtDNA deletionsa | − | – | – | 2 | 2 |
| + | 18 | 1 | 3 | 2 | |
aFor DOA+ patients where muscle biopsies were available for histochemical and molecular analysis (n = 28).
