LGMD2E patients risk developing dilated cardiomyopathy

M. Fanin, P. Melacini, C. Boito, E. Pegoraro, C. Angelini

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)303-309
Number of pages7
JournalNeuromuscular Disorders
Issue number4
Publication statusPublished - May 2003


  • 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


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