A dysfunctional desmin mutation in a patient with severe generalized myopathy

Ana M. Muñoz-Mármol, Geraldine Strasser, Marcos Isamat, Pierre A. Coulombe, Yanmin Yang, Xavier Roca, Elena Vela, José L. Mate, Jaume Coll, María Teresa Fernández-Figueras, José J. Navas-Palacios, Aurelio Ariza, Elaine Fuchs

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238 Citations (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology