Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation
- 1 June 2000
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 57 (6) , 423-429
- https://doi.org/10.1034/j.1399-0004.2000.570604.x
Abstract
Desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in pati...Keywords
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