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myotilin Mutation found in second pedigree with LGMD1A.
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Hauser MA, et al. Among authors: kowaljow v. Am J Hum Genet. 2002 Dec;71(6):1428-32. doi: 10.1086/344532. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428213 Free PMC article.
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.
Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL. Kowaljow V, et al. Neuromuscul Disord. 2007 Aug;17(8):611-23. doi: 10.1016/j.nmd.2007.04.002. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588759