title: Congenital myopathies.
abstract: The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.
authors.affiliation: Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147 Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D006801:Humans; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020512:Myopathy, Central Core / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D009124:Muscle Proteins