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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Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña: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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