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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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DOI

10.1007/bf00238902

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1432-1076

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Familial Xlinked cardiomyopathy Danon disease

Authors: Christian Balmer Diana Ballhausen Nils U Bosshard Beat Steinmann Eugen Boltshauser Urs Bauersfeld Andrea SupertiFurga
Publish Date: 2005/05/12
Volume: 164, Issue: 8, Pages: 509-514
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Abstract

A boy presented at age 25 years with mild left ventricular hypertrophy and mild myopathy Hypertrophic cardiomyopathy progressed relentlessly leading to death at age 16 years shortly before planned heart transplantation During the course of the disease his mother developed severe dilated cardiomyopathy and died of its complications at 46 years of age The combination of myopathy and cardiomyopathy the biochemical and electron microscopy findings in a muscle biopsy and the pedigree suggested Danon disease MIM 300257 an Xlinked lysosomal storage disorder caused by deficiency of lysosomeassociated membrane protein2 LAMP2 The diagnosis was confirmed by the identification of a novel mutation G138A in the LAMP2gene leading to the premature stop codon W46X ConclusionEarly diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation the only effective therapeutic option

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