A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. J Neurol. 2004 Feb; 251(2):143-9.