eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dilated cardiomyopathy |
| Symptom | C0264886|conduction defects |
| Sentences | 6 |
| PubMedID- 22905185 | Interestingly, only homozygous—but not heterozygous—knock-in mouse models for either muscular dystrophy-associated or cardiac-specific lmna mutations , display dilated cardiomyopathy with conduction defects and premature death. |
| PubMedID- 22106718 | The meeting focused on the following main areas: 1) the biology of the nucleus and the nuclear envelope and the biological pathways affected in laminopathies; 2) the epidemiology of muscle laminopathies, lipodystrophies and progeroid syndromes; 3) the emery- dreifuss muscular dystrophy (edmd) from a clinical point of view; 4) dilated cardiomyopathy with conduction defects (cmd-cd) from diagnosis to therapy; 5) familial partial lipodystrophy of the dunningan type (fpld): diagnosis and therapy; 6) progeroid laminopathies, including mandibuloacral displasia (mada) and hutchinson-gilford progeria (hgps): diagnosis and therapeutic trials. |
| PubMedID- 23815988 | Emery-dreifuss muscular dystrophy (edmd) is classically characterized clinically by a triad of: (1) slowly progressive muscle weakness and wasting in a scapulo-humeroperoneal distribution; (2) early contractures of the elbows, ankles, and posterior neck; and (3) dilated cardiomyopathy with conduction defects . |
| PubMedID- 22006699 | dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-alpha2-chain gene: a chance association or a novel phenotype. |
| PubMedID- 25886484 | These disorders are called laminopathies, and they include autosomal dominant emery-dreifuss muscular dystrophy (emdm), autosomal repressive emdm, limb-girdle muscular dystrophy 1b (lgmd1b), dilated cardiomyopathy with conduction defects (cmd1a), and cmt type 2b1 (cmt2b1). |
| PubMedID- 22691392 | They include emery-dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1b, dilated cardiomyopathy with conduction defects, dunnigan type familial partial lipodystrophy, mandibuloacral dysplasia . |
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