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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

✍ Scribed by Goldfarb, Lev G.; Park, Kye-Yoon; Cervenáková, Larisa; Gorokhova, Svetlana; Lee, Hee-Suk; Vasconcelos, Olavo; Nagle, James W.; Semino-Mora, Christina; Sivakumar, Kumaraswamy; Dalakas, Marinos C.


Book ID
109498487
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
123 KB
Volume
19
Category
Article
ISSN
1061-4036

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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