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Diversity of cardiomyopathy phenotypes caused by mutations in desmin

✍ Scribed by Anna Kostera-Pruszczyk; Piotr Pruszczyk; Anna Kamińska; Hee-Suk Lee; Lev G. Goldfarb


Book ID
116546670
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
106 KB
Volume
131
Category
Article
ISSN
0167-5273

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Myofibrillar myopathy (MFM) encompasses a genetically heterogeneous group of human diseases caused by mutations in genes coding for structural proteins of muscle. Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of ''d