Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

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 immu...

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Published in:J Neuropathol Exp Neurol
Main Authors: Malfatti, Edoardo, Olivé, Montse, 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
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5210222/
https://ncbi.nlm.nih.gov/pubmed/23965743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e3182a23506
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