Disease ID | Source | Name | Description |
256030 | OMIM | Nemaline myopathy 2 (NEM2) | A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. The disease is caused by variants affecting the gene represented in this entry. |