Abstract | BACKGROUND: AIM: METHODS: Clinical, morphological, immunohistochemical and ultrastructural analysis was performed. Paraffin sections of cardiac muscle were stained using routine histochemical methods. Frozen sections of skeletal muscle were stained using histochemical methods as well as using monoclonal antisera against N-terminal of dystrophin and antisera against LAMP-2. Ultrastructural examination of both cardiac and skeletal muscle specimens were performed. RESULTS: Cardiac and skeletal muscle revealed an excessive accumulation of early and late autophagic vacuoles containing various cytoplasmic debris. In immunohistochemical analysis the vacuolar membrane seen in skeletal muscle was decorated with antibody against dystrophin and such vacuoles were negative for LAMP-2. CONCLUSION: Ultrastructural and immunohistochemical analysis of skeletal muscle (less invasive than myocardial biopsy) may be used in diagnosis of Danon disease. Early diagnosis of Danon disease is important for timely cardiac transplantation, the only effective therapeutic option.
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Authors | Anna Fidziańska, Ewa Walczak, Michał Walski, Edyta Wiśniewska, Teresa Wagner, Marek Kuch |
Journal | Kardiologia polska
(Kardiol Pol)
Vol. 66
Issue 3
Pg. 302-6
(Mar 2008)
ISSN: 0022-9032 [Print] Poland |
Vernacular Title | Morfologiczne i kliniczne aspekty choroby Danona. |
PMID | 18393115
(Publication Type: Case Reports, English Abstract, Journal Article)
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Topics |
- Adult
- Glycogen Storage Disease Type IIb
(pathology)
- Humans
- Male
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