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Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.


Myotilin, also known as MYOT, is a human gene.[1]

Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; MIM 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; MIM 102575), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.[supplied by OMIM][1]


  1. 1.0 1.1 "Entrez Gene: MYOT myotilin".

Further reading

  • Speer MC, Yamaoka LH, Gilchrist JH; et al. (1992). "Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q". Am. J. Hum. Genet. 50 (6): 1211–7. PMID 1598902.
  • Dixon MJ, Read AP, Donnai D; et al. (1991). "The gene for Treacher Collins syndrome maps to the long arm of chromosome 5". Am. J. Hum. Genet. 49 (1): 17–22. PMID 1676560.
  • Bartoloni L, Horrigan SK, Viles KD; et al. (1999). "Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31". Genomics. 54 (2): 250–5. doi:10.1006/geno.1998.5579. PMID 9828127.
  • Salmikangas P, Mykkänen OM, Grönholm M; et al. (1999). "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy". Hum. Mol. Genet. 8 (7): 1329–36. PMID 10369880.
  • Godley LA, Lai F, Liu J; et al. (1999). "TTID: A novel gene at 5q31 encoding a protein with titin-like features". Genomics. 60 (2): 226–33. doi:10.1006/geno.1999.5912. PMID 10486214.
  • Hauser MA, Horrigan SK, Salmikangas P; et al. (2000). "Myotilin is mutated in limb girdle muscular dystrophy 1A". Hum. Mol. Genet. 9 (14): 2141–7. PMID 10958653.
  • van der Ven PF, Wiesner S, Salmikangas P; et al. (2000). "Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin". J. Cell Biol. 151 (2): 235–48. PMID 11038172.
  • Hauser MA, Conde CB, Kowaljow V; et al. (2003). "myotilin Mutation found in second pedigree with LGMD1A". Am. J. Hum. Genet. 71 (6): 1428–32. PMID 12428213.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Salmikangas P, van der Ven PF, Lalowski M; et al. (2003). "Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly". Hum. Mol. Genet. 12 (2): 189–203. PMID 12499399.
  • Battle MA, Maher VM, McCormick JJ (2003). "ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways". Biochemistry. 42 (24): 7270–82. doi:10.1021/bi034081y. PMID 12809483.
  • Selcen D, Engel AG (2004). "Mutations in myotilin cause myofibrillar myopathy". Neurology. 62 (8): 1363–71. PMID 15111675.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination". J. Mol. Biol. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.
  • Gontier Y, Taivainen A, Fontao L; et al. (2006). "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins". J. Cell. Sci. 118 (Pt 16): 3739–49. doi:10.1242/jcs.02484. PMID 16076904.
  • von Nandelstadh P, Grönholm M, Moza M; et al. (2005). "Actin-organising properties of the muscular dystrophy protein myotilin". Exp. Cell Res. 310 (1): 131–9. doi:10.1016/j.yexcr.2005.06.027. PMID 16122733.
  • Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Foroud T, Pankratz N, Batchman AP; et al. (2006). "A mutation in myotilin causes spheroid body myopathy". Neurology. 65 (12): 1936–40. doi:10.1212/01.wnl.0000188872.28149.9a. PMID 16380616.
  • Garvey SM, Senderek J, Beckmann JS; et al. (2006). "Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)". Ann. Hum. Genet. 70 (Pt 3): 414–6. doi:10.1111/j.1529-8817.2005.00252.x. PMID 16674563.
  • Pénisson-Besnier I, Talvinen K, Dumez C; et al. (2006). "Myotilinopathy in a family with late onset myopathy". Neuromuscul. Disord. 16 (7): 427–31. doi:10.1016/j.nmd.2006.04.009. PMID 16793270.


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