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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. Among authors: goldfarb lg. 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.
Desmin splice variants causing cardiac and skeletal myopathy.
Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG. Park KY, et al. Among authors: goldfarb lg. J Med Genet. 2000 Nov;37(11):851-7. doi: 10.1136/jmg.37.11.851. J Med Genet. 2000. PMID: 11073539 Free PMC article.
Desmin myopathy.
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Goldfarb LG, et al. Brain. 2004 Apr;127(Pt 4):723-34. doi: 10.1093/brain/awh033. Epub 2004 Jan 14. Brain. 2004. PMID: 14724127 Review.
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Among authors: goldfarb lg. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196
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.
176 results