eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0026848|myopathy |
| Sentences | 5 |
| 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- 20042189 | Results/conclusions: our review suggests that some patients are susceptible to statin myopathy because of pre-existing subclinical inherited muscular disorders, or genetic variation in statin uptake proteins encoded by slco1b1 or the cytochrome p enzyme system. |
| PubMedID- 22528929 | Objective: we sought to improve the utility of t2 measurement as a marker of active muscle disease in patients with idiopathic inflammatory myopathy by correcting for t2 prolongations caused by fatty replacement of muscle that accompnaies chronic muscle damage. |
| PubMedID- 21858002 | Sepn1-related myopathy describes a group of muscle diseases, clinically homogeneous although with variable severity, all caused by mutations in the gene encoding selenoprotein n (seln). |
| PubMedID- 25024579 | Although hypothyroid myopathy represents 5-10% of all acquired myopathies, hs is conspicuously rare. |
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