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- W2039349211 abstract "Clinical GeneticsVolume 71, Issue 6 p. 592-593 The position of the mutation within the LMNA gene determines the type and extent of tissue involvement in laminopathies I Landires, Corresponding Author I Landires Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaIvan LandiresGenomics and Proteomics SectionGorgas Memorial Institute of Health Studies0816-02593, Panama CityPanamaTel.: 00 507 2274111;Fax: 00 507 2254366;e-mail: [email protected]Search for more papers by this authorJM Pascale, JM Pascale Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaSearch for more papers by this authorJ Motta, J Motta Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaSearch for more papers by this author I Landires, Corresponding Author I Landires Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaIvan LandiresGenomics and Proteomics SectionGorgas Memorial Institute of Health Studies0816-02593, Panama CityPanamaTel.: 00 507 2274111;Fax: 00 507 2254366;e-mail: [email protected]Search for more papers by this authorJM Pascale, JM Pascale Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaSearch for more papers by this authorJ Motta, J Motta Genomics and Proteomics Section, GorgasMemorial Institute of Health Studies,Panama City, PanamaSearch for more papers by this author First published: 25 April 2007 https://doi.org/10.1111/j.1399-0004.2007.00772.xCitations: 6Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1 Hegele RA. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005: 68 (1): 31– 34. 2 Morel CF, Thomas MA, Cao H et al. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy (FPLD2). J Clin Endocrinol Metab 2006: 91 (7): 2689– 2695. 3 Vantyghem MC, Pigny P, Maurage CA et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004: 89 (11): 5337– 5346. 4 Baghdiguian S, Martin M, Richard I et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A. Nat Med 1999: 5 (5): 503– 511. 5 Lammerding J, Schulze PC, Takahashi T et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004: 113 (3): 370– 378. 6 Jayanthi S, Deng X, Noailles PA, Ladenheim B, Cadet JL. Methamphetamine induces neuronal apoptosis via cross-talks between endoplasmic reticulum and mitochondria-dependent death cascades. FASEB J 2004: 18 (2): 238– 251. 7 Hall JG. A clinician’s plea. Nat Genet 2003: 33 (4): 440– 442. Citing Literature Volume71, Issue6June 2007Pages 592-593 ReferencesRelatedInformation" @default.
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