eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0206157|nemaline myopathy |
| Sentences | 3 |
| PubMedID- 22188717 | The complication of dilated cardiomyopathy in nemaline myopathy has rarely been reported. |
| 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]). |
| PubMedID- 23784376 | Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the acta1 gene encoding skeletal muscle alpha-actin. |
Page: 1