1. Volume 8, Issue 8, Pages 1214-1221 (August 2011)
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy 
Annukka M. Lahtinen, MSc, Eero Lehtonen, MD, PhD, Annukka Marjamaa, MD, PhD, Maija Kaartinen, MD, PhD, Tiina Heliö, MD, PhD, Kimmo Porthan, MD, Lasse Oikarinen, MD, PhD, Lauri Toivonen, MD, PhD, Heikki Swan, MD, PhD, Antti Jula, MD, PhD, Leena Peltonen, MD, PhD, Aarno Palotie, MD, PhD, Veikko Salomaa, MD, PhD, Kimmo Kontula, MD, PhD 
Heart Rhythm 
Volume 8, Issue 8, Pages (August 2011)
DOI: /j.hrthm
Copyright © 2011 Heart Rhythm Society Terms and Conditions

2. Figure 1
Family D with DSG2 3059_3062delAGAG (A) and electropherogram of a wild type and a heterozygote (B). Three of 5 DSG2 3059_3062delAGAG mutation carriers (+) fulfill either the Task Force criteria (solid symbols) or the modified criteria for family members (shaded symbols). All noncarriers (−) are unaffected (open symbols). Squares symbolize males, circles females, and crossed symbols deceased individuals. Partial amino acid sequences are shown (B). N/A = no genetic or clinical information available.
Heart Rhythm 2011 8, DOI: ( /j.hrthm )
Copyright © 2011 Heart Rhythm Society Terms and Conditions

3. Figure 2
Location of DSP T1373A and conservation of the mutated amino acid. T1373A is located in the desmoplakin I rod domain involved in homodimerization. The region is evolutionary conserved, and the mutated amino acid is invariant between different species. Sequences are aligned according to UCSC Genome Browser Vertebrate Multiz Alignment & Conservation. Frog denotes Xenopus tropicalis.
Heart Rhythm 2011 8, DOI: ( /j.hrthm )
Copyright © 2011 Heart Rhythm Society Terms and Conditions

4. Figure 3
Immunostaining of desmoglein-2 (A–B), plakophilin-2 (C–D), plakoglobin (E–F), desmoplakin (G–H), and N-cadherin (I–J) at the intercalated disks of endomyocardial samples. The ARVC patient (DSG2 3059_3062delAGAG) shows reduced immunoreactive signal for desmoglein-2 (B), plakophilin-2 (D), plakoglobin (F), and desmoplakin (H) compared with a non-ARVC subject (A, C, E, G). Immunoreactive signal for the nondesmosomal adhesion protein N-cadherin, used to control for tissue quality, was strong in the ARVC samples (J) and indistinguishable from controls (I). Bar = 50 μm.
Heart Rhythm 2011 8, DOI: ( /j.hrthm )
Copyright © 2011 Heart Rhythm Society Terms and Conditions

5. Figure 4
Electron micrographs showing intercalated disk regions in endomyocardial samples. Both the non-ARVC subject (A) and the ARVC patient (B, DSG2 3059_3062delAGAG) show relatively well preserved cell-cell junction arrays. The intercalated disk region appears more vacuolated in the ARVC sample (asterisks in B). Note the disorganized structure (arrow in B), apparently consisting of junctional plaque and attached filament material. Bar = 500 nm.
Heart Rhythm 2011 8, DOI: ( /j.hrthm )
Copyright © 2011 Heart Rhythm Society Terms and Conditions