title: Congenital myopathies: an update.
abstract: Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
authors.forename: Jessica R
authors.initials: JR
authors.lastname: Nance
authors.forename: James J
authors.initials: JJ
authors.lastname: Dowling
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gibbs
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000818:Animals; D004195:Disease Models, Animal; D034285:Dynamin II / Q000235:genetics; D006801:Humans; D051379:Mice; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D009687:Nuclear Proteins; D019837:Ryanodine Receptor Calcium Release Channel; D025521:Tumor Suppressor Proteins; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin; D034285:Dynamin II