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Review
. 2014 Sep;7(5):843-9.
doi: 10.1161/CIRCHEARTFAILURE.114.001105.

Danon disease: clinical features, evaluation, and management

Ryan S D'souza  1 , Cecilia Levandowski  1 , Dobromir Slavov  1 , Sharon L Graw  1 , Larry A Allen  1 , Eric Adler  1 , Luisa Mestroni  1 , Matthew R G Taylor  2
Affiliations
Review

Danon disease: clinical features, evaluation, and management

Ryan S D'souza et al. Circ Heart Fail. 2014 Sep.
No abstract available

Keywords: cardiomyopathy, dilated; cardiomyopathy, hypertrophic; genetics; glycogen storage disease type IIb; lysosomal-associated membrane protein 2; molecular biology; mutation.

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Conflict of interest statement

Disclosures

None.

Figures

Figure 1
Figure 1. Histological Images From Skeletal Muscle Biopsy and Endomyocardial Biopsy
Electron microscopy shows intracytoplasmic vacuoles (arrows) containing autophagic material and glycogen in both a) skeletal muscle (Bar 1 μm) and b) endomyocardial tissue biopsy (Bar 1 μm). Reprinted from Taylor et al with permission of the publisher. Copyright © 2007, Nature Publishing Group. Authorization for this adaptation has been obtained both from the owner of the copyright in the original work and from the owner of copyright in the translation or adaptation.
Figure 2
Figure 2. LAMP2 Mutations in Danon Disease
This visual display (not to scale) includes locations of previously reported and novel LAMP2 mutations causing Danon disease. Relative positions of mutations are reflected via arrows and bars (deletion and duplications indicated by bars only). Refer to Supplemental Table 1 for specific mutation information.
Figure 3
Figure 3. Genotype-Phenotype Correlation
Age of first-symptom-onset by gender and mutation type is depicted. Mutation types were used as categories of genotype, while age of symptom onset (usually cardiomyopathy but also included skeletal myopathy) was used as a measure of phenotype severity. The utilization of age of death as a measure of phenotype severity (not shown) displayed similar trends, although not enough cases were present in several mutation categories to assess statistical significance. n = number of Danon disease patients
See this image and copyright information in PMC

References

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