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A Nationwide Survey on Danon Disease in Japan.

International journal of molecular sciences (2018-11-11)
Kazuma Sugie, Hirofumi Komaki, Nobuyuki Eura, Tomo Shiota, Kenji Onoue, Hiroyasu Tsukaguchi, Narihiro Minami, Megumu Ogawa, Takao Kiriyama, Hiroshi Kataoka, Yoshihiko Saito, Ikuya Nonaka, Ichizo Nishino
ABSTRACT

Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and management, we performed the first nationwide, questionnaire-based survey on Danon disease in Japan. A total of 39 patients (17 males, 22 females) from 20 families were identified in the analysis. All patients had cardiomyopathy. Of the 21 patients who died, 20 (95%) died of cardiac failure or sudden cardiac arrest. Most patients had hypertrophic cardiomyopathy. Wolf⁻Parkinson⁻White syndrome was present at a comparatively high incidence (54% in males, 22% in females). Only one female patient received a heart transplant, which is the most effective therapy. Histopathologically, all male patients showed autophagic vacuoles with sarcolemmal features in muscle. Half of the probands showed de novo mutations. Male patients showed completely absent LAMP-2 expression in muscle. In contrast, female patients showed decreased LAMP-2 expression, which is suggested to reflect LAMP-2 haploinsufficiency due to a heterozygous null mutation. In conclusion, Danon disease is an extremely rare muscular disorder in Japan. Cardiomyopathy is the most significant prognostic factor and the main cause of death. Our findings suggest that the present survey can extend our understanding of the clinical features of this rare disease.

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Anti-Laminin α2 Antibody, clone 5H2, ascites fluid, clone 5H2, Chemicon®
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