Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

Lucia Morandi, Marina Mora, Valeria Confalonieri, Rita Barresi, Claudia Di Blasi, Raffaella Brugnoni, Pia Bernasconi, Renato Mantegazza, Federica Dworzak, Carlo Antozzi, Maria Rosa Balestrini, Laura Jarre, Antonella Pini, Luciano Merlini, Giovanni Piccolo, Adriana Mazzanti, Sergio Daniel, Flavia Blàsevich, Ferdinando Cornelio

Research output: Contribution to journalArticlepeer-review


We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testing. Dystrophin expression was analysed by immunohistochemistry and western blot using antibodies against six different segments of the protein. DNA mutations were investigated by PCR amplification of 30 exons. Based on dystrophin expression at the sarcolemma, two groups of patients were identified: group A (29 patients) with the classic patchy distribution of dystrophin and group B (30 patients) with absence or reduction of one or more dystrophin portions and variable, although mostly normal, expression of the other portions of the protein. Dystrophin molecular weight was normal or slightly reduced in group A and was variably reduced, generally conspicuously so, in group B. The quantity of dystrophin expressed varied markedly in both groups. The pattern of immunohistochemical staining in group B patients correlated with milder clinical phenotype, suggesting that small dystrophin molecules lacking a portion in the N-terminus or in the rod domain, are more functional than proteins with normal or slightly reduced molecular weight that display the BMD-typical patchy distribution at the sarcolemma.

Original languageEnglish
Pages (from-to)146-155
Number of pages10
JournalJournal of the Neurological Sciences
Issue number2
Publication statusPublished - 1995


  • Becker muscular dystrophy
  • Dystrophin analysis
  • Gene deletions
  • Phenotype-dystrophin correlation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Ageing
  • Surgery
  • Developmental Neuroscience
  • Neuroscience(all)


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