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Title: | Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders |
Author: | Malfatti, Edoardo Olivé i Plana, Montserrat Taratuto, Ana Lía Richard, Pascale Brochier, Guy Bitoun, Marc Gueneau, Lucie Laforêt, Pascal Stojkovic, Tanya Maisonobe, Thierry Monges, Soledad Lubieniecki, Fabiana Vasquez, Gabriel Streichenberger, Nathalie Lacène, Emmanuelle Saccoliti, Maria Prudhon, Bernard Alexianu, Marilena Figarella-Branger, Dominique Schessl, Joachim Bonnemann, Carsten Eymard, Bruno Fardeau, Michel Bonne, Gisèle Romero, Norma Beatriz |
Keywords: | Malalties musculars Distròfia muscular Muscular Diseases Muscular dystrophy |
Issue Date: | 1-Sep-2013 |
Publisher: | Oxford University Press |
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. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1097/NEN.0b013e3182a23506 |
It is part of: | Journal of Neuropathology and Experimental Neurology, 2013, vol. 72, num. 9, p. 833-845 |
URI: | http://hdl.handle.net/2445/126442 |
Related resource: | https://doi.org/10.1097/NEN.0b013e3182a23506 |
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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