eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital myopathy |
| Comorbidity | C0026848|myopathy |
| Sentences | 3 |
| PubMedID- 21104864 | Nemaline myopathy (nem) is one of the most common congenital myopathies. |
| PubMedID- 20737540 | Actin myopathy is another type of congenital myopathy, which is characterized by the presence of excess actin filament inclusions and typically caused by mutations in acta1. |
| PubMedID- 22174871 | Nemaline myopathy (one of the commonest congenital myopathies) is a genetic disease of skeletal muscle classified by muscle weakness and the presence of rod-like accumulations within the myofibres called nemaline bodies (“nema” from the greek word meaning thread; [1]). |
Page: 1