eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nemaline myopathy |
| Symptom | C0004093|weakness |
| Sentences | 3 |
| PubMedID- 22375125 | Thus, loss of thin filament length regulation appears to be an important contributor to muscle weakness in patients with nemaline myopathy. |
| PubMedID- 23572184 | To date no therapy exists to treat muscle weakness in nemaline myopathy. |
| PubMedID- 20589077 | Nebulin's role in thin filament length regulation provides a mechanism for the first time to explain severe muscle weakness in patients with nemaline myopathy, a debilitating disease frequently caused by nebulin gene mutations and reduced nebulin protein levels . |
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