Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency

Alessandro Prelle, M. Sciacco, L. Tancredi, G. Fagiolari, G. P. Comi, P. Ciscato, M. Serafini, F. Fortunato, C. Zecca, A. Gallanti, L. Chiveri, N. Bresolin, G. Scarlato, M. Moggio

Research output: Contribution to journalArticlepeer-review


Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle protein called dysferlin. The protein is normally expressed at the skeletal muscle level and absent or reduced in affected patients. We selected a clinically heterogeneous population of Italian myopathic patients with clinical evidence of myopathy and/or hyperCKemia, EMG myopathic pattern, and no alterations of the dystrophin-sarcoglycan complex. Calpain, merosin, emerin and caveolin were also tested and found normal in all patients. Dysferlin immunohistochemical and Western blot analyses allowed us to identify six patients with dysferlin deficiency: one with distal myopathy, four with limb girdle myopathy and one with hyperCKemia. No apoptosis was found in any of the six muscle specimens, although expression of the pro-apoptotic Fas antigen was mildly increased in two cases. Inflammatory reactions were present in two of the six cases, but we found no evidence of immune-mediated processes.

Original languageEnglish
Pages (from-to)537-542
Number of pages6
JournalActa Neuropathologica
Issue number6
Publication statusPublished - Jun 1 2003


  • Apoptosis
  • Dysferlin
  • Lim-girdle dystrophy
  • Miyoshi myopathy
  • Muscle inflammation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)


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