Abstract
We report here for the first time the case of a symptomatic DMD carrier, who had a heart transplant for a severe dilated cardiomyopathy. Dystrophin immunohistochemistry, western blot and analysis of X-chromosome inactivation of leucocytes, and skeletal and cardiac muscle biopsies on the explanted heart were performed. The patient was a heterozygote for exons 50-52 deletion in the dystrophia gene. The number of dystrophin-deficient fibres in the heart was much higher than in skeletal muscle. On the other hand, the explanted heart showed a non-skewed pattern of X-chromosome inactivation, as in leukocytes and skeletal muscle. The adverse cardiac course may be explained by the absence of regeneration among cardiomyocytes.
Original language | English |
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Pages (from-to) | 585-590 |
Number of pages | 6 |
Journal | Neuromuscular Disorders |
Volume | 8 |
Issue number | 8 |
DOIs | |
Publication status | Published - Dec 2 1998 |
Keywords
- Duchenne muscular dystrophy
- Dystrophin
- Heart transplant
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology