Klutzny U - Search Results

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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 MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H. Walter MC, et al. Among authors: klutzny u. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K. Schoser BG, et al. Among authors: klutzny u. Ann Neurol. 2005 Apr;57(4):591-5. doi: 10.1002/ana.20441. Ann Neurol. 2005. PMID: 15786463

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: klutzny u. J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20. J Neurol. 2011. PMID: 21336781

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen Mv, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B. Borg K, et al. Among authors: klutzny u. Hum Mutat. 2009 Sep;30(9):E831-44. doi: 10.1002/humu.21063. Hum Mutat. 2009. PMID: 19492423

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