Article
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
Human molecular genetics - 1 Jun 2007
Löwe Thomas, Kley Rudolf A, van der Ven Peter F M, Himmel Mirko, Huebner Angela, Vorgerd Matthias, Fürst Dieter O
Abstract excerpt
Myofibrillar myopathy (MFM) is a pathologically defined group of hereditary human muscle diseases, characterized by focal myofibrillar destruction and cytoplasmic aggregates that contain several Z-disc-related proteins. The previously reported MFM-associated mutation (8130G --> A; W2710X) in the filamin C gene (FLNC) leads to a partial disturbance of the secondary structure of the dimerization domain of filamin...
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