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Official Full Name: desmin
Also known as: CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.