Danon disease: Case report and detection of new mutation

G. Regelsberger, R. Höftberger, W. F. Pickl, G. J. Zlabinger, U. Körmöczi, U. Salzer-Muhar, D. Luckner, O. A. Bodamer, J. A. Mayr, W. H. Muss, H. Budka, H. Bernheimer

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Danon disease is an X-linked disorder resulting frommutations in the lysosome-associated membrane protein-2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscle and leukocytes, western blot analysis of leukocytes and cardiac muscle, flow cytometry, and DNA sequencing were performed. Muscle biopsy revealed autophagic vacuolar myopathy and lack of immunohistochemically detectable LAMP-2. Diagnosis of Danon disease was confirmed by western blot analysis of myocardial tissue and peripheral blood sample of the patient showing deficiency of LAMP-2 in myocardium and leukocytes. Moreover, absence of LAMP-2 in lymphocytes, monocytes and granulocytes was shown by flow cytometric analysis. Genetic analysis of the LAMP2 gene revealed a novel 1-bp deletion at position 179 (c.179delC) at the 3′ end of exon 2, resulting in a frameshift with a premature stop codon.

Original languageEnglish (US)
Pages (from-to)S115-S122
JournalJournal of Inherited Metabolic Disease
Issue numberSUPPL. 1
StatePublished - Dec 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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