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The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: zaik m. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins.
Moghadaszadeh B, Albrechtsen R, Guo LT, Zaik M, Kawaguchi N, Borup RH, Kronqvist P, Schroder HD, Davies KE, Voit T, Nielsen FC, Engvall E, Wewer UM. Moghadaszadeh B, et al. Among authors: zaik m. Hum Mol Genet. 2003 Oct 1;12(19):2467-79. doi: 10.1093/hmg/ddg264. Epub 2003 Aug 5. Hum Mol Genet. 2003. PMID: 12915458