eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital myopathy |
| Comorbidity | C0206157|nemaline myopathy |
| Sentences | 3 |
| 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- 21104864 | nemaline myopathy (nem) is one of the most common congenital myopathies. |
| PubMedID- 23784376 | Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the acta1 gene encoding skeletal muscle alpha-actin. |
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