Document Detail

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.
MedLine Citation:
PMID:  12734659     Owner:  NLM     Status:  MEDLINE    
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.
A 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
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-03-04
Journal Detail:
Title:  Acta neuropathologica     Volume:  105     ISSN:  0001-6322     ISO Abbreviation:  Acta Neuropathol.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-05-07     Completed Date:  2003-07-11     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  537-42     Citation Subset:  IM    
Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Ospedale Maggiore-Policlinico IRCCS, Via F. Sforza 35, 20122, Milan, Italy.
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MeSH Terms
Antigens, CD95 / metabolism
Blotting, Western / methods
Dystrophin / metabolism
Evaluation Studies as Topic
Immunohistochemistry / methods
Membrane Proteins*
Middle Aged
Muscle Proteins / deficiency*,  genetics,  metabolism*
Muscle, Skeletal / pathology
Muscular Dystrophies / classification,  diagnosis,  genetics,  metabolism*
Grant Support
Reg. No./Substance:
0/Antigens, CD95; 0/DYSF protein, human; 0/Dystrophin; 0/Membrane Proteins; 0/Muscle Proteins

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