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Official Full Name
desmin
Background
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. [provided by RefSeq, Jul 2008]
Synonyms
DES; desmin; CSM1; CSM2; LGMD2R; mutant desmin p.K241E; intermediate filament protein; CMD1I; FLJ12025; FLJ39719; FLJ41013; FLJ41793; CMD1I, CSM1, CSM2, FLJ12025, FLJ39719, FLJ41013, FLJ41793, MFM1, SCPNK,DES

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