Document Detail


X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization.
MedLine Citation:
PMID:  15880484     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding.
Authors:
Carmen Paradas; Celedonio Márquez; Eduard Gallardo; Noemí De Luna; Isidoro Chinchón; Dominique Recan; María Dolores Jiménez; Isabel Illa
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  32     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-06-22     Completed Date:  2005-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  61-5     Citation Subset:  IM    
Affiliation:
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain.
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MeSH Terms
Descriptor/Qualifier:
Adult
Biopsy
Dystrophin / metabolism
Gene Deletion
Humans
Immunohistochemistry
Laminin / metabolism
Male
Membrane Proteins / genetics*
Muscular Dystrophy, Emery-Dreifuss / genetics*,  pathology*
Nuclear Proteins
Phenotype
Siblings
Thymopoietins / genetics*
Vacuoles / metabolism,  pathology*
Chemical
Reg. No./Substance:
0/Dystrophin; 0/Laminin; 0/Membrane Proteins; 0/Nuclear Proteins; 0/Thymopoietins; 0/emerin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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