Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/126442
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dc.contributor.authorMalfatti, Edoardo-
dc.contributor.authorOlivé i Plana, Montserrat-
dc.contributor.authorTaratuto, Ana Lía-
dc.contributor.authorRichard, Pascale-
dc.contributor.authorBrochier, Guy-
dc.contributor.authorBitoun, Marc-
dc.contributor.authorGueneau, Lucie-
dc.contributor.authorLaforêt, Pascal-
dc.contributor.authorStojkovic, Tanya-
dc.contributor.authorMaisonobe, Thierry-
dc.contributor.authorMonges, Soledad-
dc.contributor.authorLubieniecki, Fabiana-
dc.contributor.authorVasquez, Gabriel-
dc.contributor.authorStreichenberger, Nathalie-
dc.contributor.authorLacène, Emmanuelle-
dc.contributor.authorSaccoliti, Maria-
dc.contributor.authorPrudhon, Bernard-
dc.contributor.authorAlexianu, Marilena-
dc.contributor.authorFigarella-Branger, Dominique-
dc.contributor.authorSchessl, Joachim-
dc.contributor.authorBonnemann, Carsten-
dc.contributor.authorEymard, Bruno-
dc.contributor.authorFardeau, Michel-
dc.contributor.authorBonne, Gisèle-
dc.contributor.authorRomero, Norma Beatriz-
dc.date.accessioned2018-11-26T15:15:09Z-
dc.date.available2018-11-26T15:15:09Z-
dc.date.issued2013-09-01-
dc.identifier.urihttps://hdl.handle.net/2445/126442-
dc.description.abstractFHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery-Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. We report a detailed histochemical, immunohistochemical, electron microscopic, and immunoelectron microscopic analyses of muscle biopsies from 18 patients carrying mutations in FHL1: 14 RBM patients (Group 1), 3 Emery-Dreifuss muscular dystrophy patients (Group 2), and 1 patient with hypertrophic cardiomyopathy and muscular hypertrophy (Group 2). Group 1 muscle biopsies consistently showed RBs associated with cytoplasmic bodies. The RBs showed prominent FHL1 immunoreactivity whereas desmin, alpha B-crystallin, and myotilin immunoreactivity surrounded RBs. By electron microscopy, RBs were composed of electron-dense tubulofilamentous material that seemed to spread progressively between the myofibrils and around myonuclei. By immunoelectron microscopy, FHL1 protein was found exclusively inside RBs. Group 2 biopsies showed mild dystrophic abnormalities without RBs; only minor nonspecific myofibrillar abnormalities were observed under electron microscopy. Molecular analysis revealed missense mutations in the second FHL1 LIM domain in Group 1 patients and ins/del or missense mutations within the fourth FHL1 LIM domain in Group 2 patients. Our findings expand the morphologic features of RBM, clearly demonstrate the localization of FHL1 in RBs, and further illustrate major morphologic differences among different FHL1-related myopathies.-
dc.format.extent23 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoeng-
dc.publisherOxford University Press-
dc.relation.isformatofVersió postprint del document publicat a: https://doi.org/10.1097/NEN.0b013e3182a23506-
dc.relation.ispartofJournal of Neuropathology and Experimental Neurology, 2013, vol. 72, num. 9, p. 833-845-
dc.relation.urihttps://doi.org/10.1097/NEN.0b013e3182a23506-
dc.rights(c) American Association of Neuropathologists, 2013-
dc.sourceArticles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))-
dc.subject.classificationMalalties musculars-
dc.subject.classificationDistròfia muscular-
dc.subject.otherMuscular Diseases-
dc.subject.otherMuscular dystrophy-
dc.titleSkeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/acceptedVersion-
dc.date.updated2018-07-24T12:46:34Z-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
dc.identifier.pmid23965743-
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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