PubMed (cited) for id: 604103

Year	Number of Results
1978	1
1999	1
2000	1
2002	1
2003	1
2004	1
2005	1
2006	1
2007	1
2011	1
2018	1
2024	0

1

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group. Straub V, et al. Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. Neuromuscul Disord. 2018. PMID: 30055862 No abstract available.

2

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20. J Neurol. 2011. PMID: 21336781

3

Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.

Moza M, Mologni L, Trokovic R, Faulkner G, Partanen J, Carpén O. Moza M, et al. Mol Cell Biol. 2007 Jan;27(1):244-52. doi: 10.1128/MCB.00561-06. Epub 2006 Oct 30. Mol Cell Biol. 2007. PMID: 17074808 Free PMC article.

4

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616

5

Mutations in myotilin cause myofibrillar myopathy.

Selcen D, Engel AG. Selcen D, et al. Neurology. 2004 Apr 27;62(8):1363-71. doi: 10.1212/01.wnl.0000123576.74801.75. Neurology. 2004. PMID: 15111675

6

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

7

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.

8

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

9

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

10

Autosomal dominant "spheroid body myopathy".

Goebel HH, Muller J, Gillen HW, Merritt AD. Goebel HH, et al. Muscle Nerve. 1978 Jan-Feb;1(1):14-26. doi: 10.1002/mus.880010104. Muscle Nerve. 1978. PMID: 571956

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