A dysfunctional desmin mutation in a patient with severe generalized myopathy

Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin in...

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Main Authors: Muñoz-Mármol, Ana M., Strasser, Geraldine, Isamat, Marcos, Coulombe, Pierre A., Yang, Yanmin, Roca, Xavier, Vela, Elena, Mate, José L., Coll, Jaume, Fernández-Figueras, María Teresa, Navas-Palacios, José J., Ariza, Aurelio, Fuchs, Elaine
Formáid: Artigo
Teanga:Inglês
Foilsithe: The National Academy of Sciences 1998
Ábhair:
Biological Sciences
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC21639/
https://ncbi.nlm.nih.gov/pubmed/9736733
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