Danon disease: Further clinical and mole
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FrΓ©dΓ©rique Sabourdy; Helen Michelakakis; Aris Anastasakis; Virginie Garcia; Iren
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Article
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2009
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John Wiley and Sons
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English
β 282 KB
## Abstract Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The __LAMP2__ mutation carried by one patient (c.928G>A) has alr