Literature DB >> 165803

Atypical myopathy with myofibrillar aggregates.

M Kinoshita, E Satoyoshi, Y Suzuki.   

Abstract

An autopsy of a 23-year-old woman with progressive muscular weakness and wasting showed a unique muscle abnormality with segmental involvement of individual fibers by peculiar inclusions. Electron microscopically, these inclusions resembled cytoplasmic bodies, being formed of two concentric zones of filamentous materials. They seemed to arise from filaments of myofibrils that were fragmented and highly disorganized in affected areas.

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Year:  1975        PMID： 165803     DOI： 10.1001/archneur.1975.00490480083010

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


  3 in total

1.  Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18- to 20-nm filaments.

Authors:  J M Schröder; C Sommer; B Schmidt
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

2.  Titin mutation segregates with hereditary myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Hannah R Elliott; Helen Griffin; Rita Barresi; James Miller; Julie Marsh; Anni Evilä; Anna Vihola; Peter Hackman; Volker Straub; David J Dick; Rita Horvath; Mauro Santibanez-Koref; Bjarne Udd; Patrick F Chinnery
Journal:  Brain       Date:  2012-05-09       Impact factor: 13.501

3.  Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Rita Barresi; Ian J Wilson; Steven A Hardy; Helen Griffin; Judith Hudson; Hannah R Elliott; Aravind V Ramesh; Aleksandar Radunovic; John B Winer; Sujit Vaidya; Ashok Raman; Mark Busby; Maria E Farrugia; Alec Ming; Chris Everett; Hedley C A Emsley; Rita Horvath; Volker Straub; Kate Bushby; Hanns Lochmüller; Patrick F Chinnery; Anna Sarkozy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-03-13       Impact factor: 10.154
  3 in total

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