Abstract
Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy. We studied six patients with β-sarcoglycanopathy. Immunohistochemical and immunoblot analysis performed on skeletal muscle biopsies from five patients, showed the loss of all sarcoglycans in three cases and marked reduction in two patients. Non-invasive cardiac examinations revealed that three patients had cardiac involvement: one had a severe Duchenne-like dystrophy, lethal dilated cardiomyopathy, and shared the same mutation reported in another cardiomyopathic patient; the other two patients had limb-girdle dystrophy and moderate cardiac involvement (one of them has a novel gene mutation). Given the age profile of the patients studied, the 50% cardiac involvement found in our LGMD2E patients is likely to be a conservative estimate. Careful cardiac monitoring should be carried out in β-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy.
Original language | English |
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Pages (from-to) | 303-309 |
Number of pages | 7 |
Journal | Neuromuscular Disorders |
Volume | 13 |
Issue number | 4 |
DOIs | |
Publication status | Published - May 2003 |
Keywords
- Dilated cardiomyopathy
- Gene mutations
- Limb girdle muscular dystrophy
- Sarcoglycan
- Skeletal muscle
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology