eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | chronic progressive external ophthalmoplegia |
| Comorbidity | C0035229|respiratory insufficiency |
| Sentences | 1 |
| PubMedID- 22326363 | We report a novel heteroplasmic point mutation g8299a in the gene for mitochondrial trna(lys) in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. |
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