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Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119
Phenotypic variability in rippling muscle disease.
Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Among authors: kubisch c. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R. Fischer D, et al. Among authors: kubisch c. J Neurol. 2005 May;252(5):538-47. doi: 10.1007/s00415-005-0684-4. Epub 2005 Feb 23. J Neurol. 2005. PMID: 15726252
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: kubisch c. Ann Neurol. 1998 Mar;43(3):326-31. doi: 10.1002/ana.410430310. Ann Neurol. 1998. PMID: 9506549
264 results