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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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Xehetasun bibliografikoak
Argitaratua izan da:J Neuropathol Exp Neurol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2013
Gaiak:
Sarrera elektronikoa: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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