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Background
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Desmin is 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 the gene encoding desmin are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.
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Background
References
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- Ariza,A., Hum. Pathol. 26 (9), 1032-1037 (1995)
- Li,Z.L., Gene 78 (2), 243-254 (1989)
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