title: A new congenital myopathy in a Norwegian family.
abstract: A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A dominant inheritance pattern was suggested. Quadriceps muscle histology showed a selective type II fibre atrophy, which is otherwise considered a non-specific change associated with a number of conditions.
  
  
  CONCLUSIONS
  A Norwegian boy with an inherited muscle weakness is presented. Based on clinical and laboratory investigations, and in light of the inheritance pattern, a previously undescribed congenital myopathy is suggested.
authors.affiliation: Department of Paediatrics, Lund University Hospital, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Aurivillius
authors.forename: S
authors.initials: S
authors.lastname: Lindal
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009664:Norway; D010375:Pedigree