eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Symptom | C0005745|ptosis |
| Sentences | 4 |
| PubMedID- 24018892 | Autosomal dominant progressive external ophthalmoplegia due to the p.r357p peo1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. |
| PubMedID- 26273216 | She has a typical congenital myopathy elongated face with ptosis, in addition to high-arched palate and slight facial weakness (figure 1b). |
| PubMedID- 20185474 | Recurrent ptosis due to myopathy of the levator palpebrae superioris. |
| PubMedID- 25215893 | Conclusions: this patient represents a case of isolated ptosis consistent with acquired myopathy secondary to mitochondrial dysfunction without systemic manifestations otherwise seen in inherited mitochondrial disorders. |
Page: 1