A dysfunctional desmin mutation in a patient with severe generalized myopathy

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: Munoz-Marmol, Ana M., Coulombe, Pierre A., Mate, José L., Navas-Palacios, José J., Strasser, Geraldine, Isamat, Marcos, Yang, Yanmin, Roca, Xavier, Vela, Elena, Coll, Jaume, Fernández-Figueras, María Teresa, Ariza, Aurelio, Fuchs, Elaine
Other Authors: School of Biological Sciences
Format: Article
Language:English
Published: 2012
Subjects:
DRNTU::Science::Biological sciences
Online Access:https://hdl.handle.net/10356/79975
http://hdl.handle.net/10220/8864
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Institution: Nanyang Technological University
Language: English

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https://hdl.handle.net/10356/79975
http://hdl.handle.net/10220/8864

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