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Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Walter, M. C. ; Reilich, P. ; Huebner, A. ; Fischer, D. ; Schröder, R. ; Vorgerd, M. ; Kress, W. ; Born, C. ; Schoser, B. G. ; Krause, K. H. ; Klutzny, U. ; Bulst, S. ; Frey, J. R. ; Lochmüller, H.

In: Brain, 2007, vol. 130, no. 6, p. 1485-1496