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

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Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H von Schoser, Benedikt G. H., Frosk, Patrick, Engel, Andrew G., Klutzny, Ursula, Lochmüller, Hanns, Wrogemann, Klaus

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Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H von Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Hagen, Maja von der, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J, Schoser, Benedikt

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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. Commentary von WALTER, M. C, REILICH, P, KLUTZNY, U, BULST, S, FREY, J. R, LOCHMÜLLER, H, LAING, Nigel G, BLOCK, B, HUEBNER, A, FISCHER, D, SCHRÖDER, R, VORGERD, M, KRESS, W, BORN, C, SCHOSER, B. G, KRAUSE, K. H

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Identification of a desmin gene mutation in scapuloperoneal syndrome von Walter, MC, Reilich, P, Huebner, A, Fischer, D, Vorgerd, M, Born, C, Schoser, BG, Klutzny, U, Frey, J, Kaeser, HE, Lochmüller, H

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Identification of a desmin gene mutation in scapuloperoneal syndrome von Walter, MC, Reilich, P, Huebner, A, Fischer, D, Vorgerd, M, Born, C, Schoser, BG, Klutzny, U, Frey, J, Kaeser, HE, Lochmüller, H

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