Article
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2011
Vattemi G, Neri M, Piffer S, Vicart P, Gualandi F, Marini M, Guglielmi V, Filosto M, Tonin P, Ferlini A, Tomelleri G
Abstract excerpt
The term myofibrillar myopathies (MFM) refers to uncommon neuromuscular disorders that pathologically are characterized by myofibrillar degeneration and ectopic expression of several proteins. MFM are partly caused by mutations in genes that encode mainly Z-disk-related proteins (desmin, alphaB-c...
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