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Myotilin is mutated in limb girdle muscular dystrophy 1A.
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Among authors: speer mc. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653
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: speer mc. 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.
Linkage analysis in familial amyotrophic lateral sclerosis.
Siddique T, Pericak-Vance MA, Brooks BR, Roos RP, Hung WY, Antel JP, Munsat TL, Phillips K, Warner K, Speer M, et al. Siddique T, et al. Neurology. 1989 Jul;39(7):919-25. doi: 10.1212/wnl.39.7.919. Neurology. 1989. PMID: 2739919
153 results