title: Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy.
abstract: We report, for the first time, muscle immunocytochemical studies in sporadic, adult onset myotubular myopathy (SAOMM), which show intramyofibrillar central, perinuclear desmin and vimentin. This pattern was absent in a normal control and in myofibers with increased internal nuclei associated with denervation and myotonic muscular dystrophy (MyD). These findings resemble those reported in 8- to 15-week-old human fetal myotubes and myofibers of infantile MM, implying a possible regression of intermediate filaments of adult myofibers to an early developmental phase in SAOMM.
mesh_terms: D003893:Desmin / Q000378:metabolism*; D004576:Electromyography; D004594:Electrophysiology; D006651:Histocytochemistry / Q000379:methods; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D012016:Reference Values; D013194:Staining and Labeling; D014018:Tissue Distribution; D014746:Vimentin / Q000378:metabolism*
chemical_list: D003893:Desmin; D014746:Vimentin