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Year | Number of Results |
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PubMed (OMIM) for id: 811509
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Mutations in myotilin cause myofibrillar myopathy.
Neurology. 2004 Apr 27;62(8):1363-71. doi: 10.1212/01.wnl.0000123576.74801.75.
Neurology. 2004.
PMID: 15111675
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schröder R, Lappalainen P, Fürst DO, Carpén O.
Salmikangas P, et al.
Hum Mol Genet. 2003 Jan 15;12(2):189-203. doi: 10.1093/hmg/ddg020.
Hum Mol Genet. 2003.
PMID: 12499399
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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.
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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.
Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141.
Hum Mol Genet. 2000.
PMID: 10958653
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Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
Salmikangas P, Mykkänen OM, Grönholm M, Heiska L, Kere J, Carpén O.
Salmikangas P, et al.
Hum Mol Genet. 1999 Jul;8(7):1329-36. doi: 10.1093/hmg/8.7.1329.
Hum Mol Genet. 1999.
PMID: 10369880
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