eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | chronic progressive external ophthalmoplegia |
| Comorbidity | C0026848|myopathy |
| Sentences | 3 |
| PubMedID- 25299315 | A 43-year-old female patient diagnosed with chronic progressive external ophthalmoplegia (cpeo) because of mitochondrial myopathy documented by muscle biopsy is presented. |
| PubMedID- 20022607 | Pathogenic mutations in the trna(leu(ucn)) gene of mitochondrial dna (mtdna) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (cpeo). |
| PubMedID- 23043144 | Clinical presentations were variable, including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis in a young female who had received a liver transplant at 9 months of age and adult-onset lower motor neuron syndrome with mild cognitive impairment. |
Page: 1