title: Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions.
abstract: We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well as intracytoplasmic and intranuclear inclusions of the inclusion body myositis-type. The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, short stature, lordosis and joint contractures were suggestive of congenital myopathy. The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Fidziańska
authors.forename: A
authors.initials: A
authors.lastname: Kamińska
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure*; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000151:congenital* / Q000473:pathology; D018979:Myositis, Inclusion Body / Q000209:etiology* / Q000473:pathology*; D014617:Vacuoles / Q000648:ultrastructure*