Homozygous Transthyretin Mutation in an African American Male

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Homozygous Transthyretin Mutation in an African American Male Eapen K. Jacob, William D. Edwards, Mark Zucker, Cyril D'Cruz, Surya V. Seshan, Frank W. Crow, W. Edward Highsmith The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 127-131 (February 2007) DOI: 10.2353/jmoldx.2007.060061 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 The left panel demonstrates the typical red-orange appearance of amyloid when stained with Congo red. The image on the right panel shows the classic apple-green birefringence of amyloid when viewed with cross-polarized filters. The Journal of Molecular Diagnostics 2007 9, 127-131DOI: (10.2353/jmoldx.2007.060061) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Transmission electron microscopy of endomyocardial biopsy tissue. Fine fibrillar deposits arranged are in a haphazard manner with cross-sections ranging in size from 8 to 12 nm (×77,500). The Journal of Molecular Diagnostics 2007 9, 127-131DOI: (10.2353/jmoldx.2007.060061) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Mass spectroscopy data. A: Normal transthyretin control. B: Heterozygous transthyretin control, Gly6Ser. C: Patient sample. The Journal of Molecular Diagnostics 2007 9, 127-131DOI: (10.2353/jmoldx.2007.060061) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Bidirectional sequencing of transthyretin exon 4 shows a point mutation at codon 122, leading to isoleucine replacing valine. The Journal of Molecular Diagnostics 2007 9, 127-131DOI: (10.2353/jmoldx.2007.060061) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions