Disease | myopathy |
Phenotype | C0026848|myopathies |
Sentences | 4 |
PubMedID- 23919265 | The histopathologic diagnoses for all cases are summarized in figure 1. the most highly represented were the core myopathies (51%) (inclusive of mmd, ccd, atypical-core myopathy, and core/rod disease), followed by cnm/cnm-like myopathies (23.6%). |
PubMedID- 22752422 | Congenital myopathies describe a group of inherited muscle disorders with neonatal or infantile onset typically associated with muscle weakness, respiratory involvement and delayed motor milestones. |
PubMedID- 23273262 | Congenital myopathies, a heterogeneous group of muscle disorders defined by distinctive morphologic abnormalities in skeletal muscle fibers, are often caused by structural defects in sarcomeric or cytoskeletal proteins [11]. |
PubMedID- 20422195 | Dysferlinopathies, which are genetically characterised by mutations in the dysferlin gene lead to lgmd 2b, distal miyoshi myopathies and a form of distal anterior compartment myopathy [42, 43]. |
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