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PedAM

Pediatric Disease Annotations & Medicines




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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