title: Congenital myopathy with tubular aggregates and tubulofilamentous IBM-type inclusions.
abstract: We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early childhood onset of the disease, proximal weakness, lumbar hyperlordosis, and bilateral Achilles tendon contractures, were suggestive of congenital myopathy. To the best of our knowledge, the coexistence of tubular aggregates and tubulofilamentous inclusions of the IBM type in a child has never been described.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. neurmyol@cmdik.pan.pl
authors.forename: A
authors.initials: A
authors.lastname: Fidziańska
authors.forename: A
authors.initials: A
authors.lastname: Kamińska
authors.forename: B
authors.initials: B
authors.lastname: Ryniewicz
mesh_terms: D000293:Adolescent; D001706:Biopsy / Q000379:methods; D005260:Female; D006801:Humans; D008854:Microscopy, Electron / Q000379:methods; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000151:congenital* / Q000473:pathology; D018979:Myositis, Inclusion Body / Q000209:etiology* / Q000473:pathology; D013194:Staining and Labeling / Q000379:methods