| Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. | |
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MedLine Citation:
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PMID: 12734659 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't Date: 2003-03-04 |
Journal Detail:
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Title: Acta neuropathologica Volume: 105 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 2003 Jun |
Date Detail:
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Created Date: 2003-05-07 Completed Date: 2003-07-11 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 537-42 Citation Subset: IM |
Affiliation:
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Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Ospedale Maggiore-Policlinico IRCCS, Via F. Sforza 35, 20122, Milan, Italy. alessandro.prelle@unimi.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Antigens, CD95 / metabolism Blotting, Western / methods Child Dystrophin / metabolism Evaluation Studies as Topic Female Humans Immunohistochemistry / methods Male Membrane Proteins* Middle Aged Muscle Proteins / deficiency*, genetics, metabolism* Muscle, Skeletal / pathology Muscular Dystrophies / classification, diagnosis, genetics, metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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GTF02008//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Antigens, CD95; 0/DYSF protein, human; 0/Dystrophin; 0/Membrane Proteins; 0/Muscle Proteins |
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