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https://hdl.handle.net/2445/126442
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DC Field | Value | Language |
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dc.contributor.author | Malfatti, Edoardo | - |
dc.contributor.author | Olivé i Plana, Montserrat | - |
dc.contributor.author | Taratuto, Ana Lía | - |
dc.contributor.author | Richard, Pascale | - |
dc.contributor.author | Brochier, Guy | - |
dc.contributor.author | Bitoun, Marc | - |
dc.contributor.author | Gueneau, Lucie | - |
dc.contributor.author | Laforêt, Pascal | - |
dc.contributor.author | Stojkovic, Tanya | - |
dc.contributor.author | Maisonobe, Thierry | - |
dc.contributor.author | Monges, Soledad | - |
dc.contributor.author | Lubieniecki, Fabiana | - |
dc.contributor.author | Vasquez, Gabriel | - |
dc.contributor.author | Streichenberger, Nathalie | - |
dc.contributor.author | Lacène, Emmanuelle | - |
dc.contributor.author | Saccoliti, Maria | - |
dc.contributor.author | Prudhon, Bernard | - |
dc.contributor.author | Alexianu, Marilena | - |
dc.contributor.author | Figarella-Branger, Dominique | - |
dc.contributor.author | Schessl, Joachim | - |
dc.contributor.author | Bonnemann, Carsten | - |
dc.contributor.author | Eymard, Bruno | - |
dc.contributor.author | Fardeau, Michel | - |
dc.contributor.author | Bonne, Gisèle | - |
dc.contributor.author | Romero, Norma Beatriz | - |
dc.date.accessioned | 2018-11-26T15:15:09Z | - |
dc.date.available | 2018-11-26T15:15:09Z | - |
dc.date.issued | 2013-09-01 | - |
dc.identifier.uri | https://hdl.handle.net/2445/126442 | - |
dc.description.abstract | FHL1 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.extent | 23 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Oxford University Press | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1097/NEN.0b013e3182a23506 | - |
dc.relation.ispartof | Journal of Neuropathology and Experimental Neurology, 2013, vol. 72, num. 9, p. 833-845 | - |
dc.relation.uri | https://doi.org/10.1097/NEN.0b013e3182a23506 | - |
dc.rights | (c) American Association of Neuropathologists, 2013 | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malalties musculars | - |
dc.subject.classification | Distròfia muscular | - |
dc.subject.other | Muscular Diseases | - |
dc.subject.other | Muscular dystrophy | - |
dc.title | Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2018-07-24T12:46:34Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 23965743 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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MalfattiE.pdf | 5.28 MB | Adobe PDF | View/Open |
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