Titre
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Balmer, C.
Auteure/Auteur
Ballhausen, D.
Auteure/Auteur
Bosshard, N.U.
Auteure/Auteur
Steinmann, B.
Auteure/Auteur
Boltshauser, E.
Auteure/Auteur
Bauersfeld, U.
Auteure/Auteur
Superti-Furga, A.
Auteure/Auteur
Liens vers les personnes
ISSN
0340-6199
Statut éditorial
Publié
Date de publication
2005
Volume
164
Numéro
8
Première page
509
Dernière page/numéro d’article
514
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
A boy presented at age 2.5 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 X-linked lysosomal storage disorder caused by deficiency of lysosome-associated membrane protein-2 (LAMP2). The diagnosis was confirmed by the identification of a novel mutation, G138A, in the LAMP2gene, leading to the premature stop codon W46X. CONCLUSION: Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option.
PID Serval
serval:BIB_44DD9202A428
PMID
Date de création
2011-03-14T15:14:25.260Z
Date de création dans IRIS
2025-05-20T16:05:20Z