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Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

✍ Scribed by Daniel E. Michele; Joseph M. Metzger


Book ID
105797240
Publisher
Springer
Year
2000
Tongue
English
Weight
131 KB
Volume
78
Category
Article
ISSN
0946-2716

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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