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Year Number of Results
1999 1
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2003 1
2004 1
2024 0

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PubMed (OMIM) for id: 811509

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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. 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.
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. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653