Literature DB >> 4000482

New observations in reducing body myopathy.

S Carpenter, G Karpati, P Holland.   

Abstract

Numerous autofluorescent reducing bodies were found in deltoid and biceps muscle biopsies of a 7-year-old girl with progressive, asymmetric muscle weakness. The structures were composed of tubular filaments as seen by electronmicroscopy. They seemed to have formed around nuclei. An excess of two unidentified proteins was found in muscle homogenates. This patient, like one previously reported, had high serum titers of antibodies to coxsackievirus, but her serum, when tested by indirect immunocytochemistry, did not react with the reducing bodies.

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Year:  1985        PMID: 4000482     DOI: 10.1212/wnl.35.6.818

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  5 in total

1.  Reducing bodies in distal myopathy with rimmed vacuole formation.

Authors:  B H Kiyomoto; N Murakami; J Kishibayashi; N Sunohara; I Nonaka
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

2.  Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Authors:  Joachim Schessl; Ana L Taratuto; Caroline Sewry; Roberta Battini; Steven S Chin; Baijayanta Maiti; Alberto L Dubrovsky; Marcela G Erro; Graciela Espada; Monica Robertella; Maria Saccoliti; Patricia Olmos; Leslie R Bridges; Peter Standring; Ying Hu; Yaqun Zou; Kathryn J Swoboda; Mena Scavina; Hans-Hilmar Goebel; Christina A Mitchell; Kevin M Flanigan; Francesco Muntoni; Carsten G Bönnemann
Journal:  Brain       Date:  2009-01-29       Impact factor: 13.501

3.  "Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.

Authors:  V Jay; J Christodoulou; A Mercer-Connolly; R R McInnes
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

4.  Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Authors:  Joachim Schessl; Yaqun Zou; Meagan J McGrath; Belinda S Cowling; Baijayanta Maiti; Steven S Chin; Caroline Sewry; Roberta Battini; Ying Hu; Denny L Cottle; Michael Rosenblatt; Lynn Spruce; Arupa Ganguly; Janbernd Kirschner; Alexander R Judkins; Jeffrey A Golden; Hans-Hilmar Goebel; Francesco Muntoni; Kevin M Flanigan; Christina A Mitchell; Carsten G Bönnemann
Journal:  J Clin Invest       Date:  2008-03       Impact factor: 14.808

5.  Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.

Authors:  E Bertini; G Salviati; F Apollo; E Ricci; S Servidei; A Broccolini; M Papacci; P Tonali
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

  5 in total

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