A new congenital myopathy in a Norwegian family.
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.
Aurivillius
M
M
Department of Paediatrics, Lund University Hospital, Sweden.
Lindal
S
S
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