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• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG. Shatunov A, et al. Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050726 Free PMC article.
• Intermediate filament diseases: desminopathy.

  Goldfarb LG, Olivé M, Vicart P, Goebel HH. Goldfarb LG, et al. Adv Exp Med Biol. 2008;642:131-64. doi: 10.1007/978-0-387-84847-1_11. Adv Exp Med Biol. 2008. PMID: 19181099 Free PMC article.
• BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress.

  Hishiya A, Kitazawa T, Takayama S. Hishiya A, et al. Circ Res. 2010 Nov 12;107(10):1220-31. doi: 10.1161/CIRCRESAHA.110.225649. Epub 2010 Sep 30. Circ Res. 2010. PMID: 20884878 Free PMC article.
• A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of "hypertrophic cardiomyopathy".

  Xiao H, Song L, Tao L. Xiao H, et al. Heliyon. 2024 Jan 21;10(3):e25009. doi: 10.1016/j.heliyon.2024.e25009. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38314304 Free PMC article.
• Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy.

  Maloyan A, Sanbe A, Osinska H, Westfall M, Robinson D, Imahashi K, Murphy E, Robbins J. Maloyan A, et al. Circulation. 2005 Nov 29;112(22):3451-61. doi: 10.1161/CIRCULATIONAHA.105.572552. Circulation. 2005. PMID: 16316967 Free PMC article.