eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dystrophy, myotonic |
| Symptom | C0004093|weakness |
| Sentences | 3 |
| PubMedID- 23660517 | These results suggest that mbnl3 inhibition by toxic rna expression may be a contributing factor to the progressive skeletal muscle weakness and wasting characteristic of myotonic dystrophy. |
| PubMedID- 22140091 | Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of ca(v)1.1 calcium channel. |
| PubMedID- 22977786 | We concluded that her upper thoracic myelopathy was likely related to the thickness of the ligamentum flavum and posterior longitudinal ligament due to repetitive mechanical stress on her neck caused by neck muscle weakness with myotonic dystrophy. |
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