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LGMD2E patients risk developing dilated cardiomyopathy
- Source :
- Neuromuscular disorders : NMD. 13(4)
- Publication Year :
- 2003
-
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.
- Subjects :
- Adult
Cardiomyopathy, Dilated
Male
medicine.medical_specialty
Adolescent
Biopsy
Blotting, Western
Cardiomyopathy
Gene mutation
Severity of Illness Index
Muscular Dystrophies
Risk Factors
Internal medicine
medicine
Humans
Child
Dystroglycans
Muscle, Skeletal
Genetics (clinical)
Sarcoglycans
Membrane Glycoproteins
biology
business.industry
Reverse Transcriptase Polymerase Chain Reaction
Dilated cardiomyopathy
medicine.disease
Troponin
Immunohistochemistry
Sarcoglycan
Cytoskeletal Proteins
Sarcoglycanopathy
Neurology
Pediatrics, Perinatology and Child Health
Mutation
biology.protein
Cardiology
Female
Neurology (clinical)
business
Limb-girdle muscular dystrophy
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 13
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Neuromuscular disorders : NMD
- Accession number :
- edsair.doi.dedup.....e501f3a82f2c2237cee9a9d20e24ef40