Document Detail

Heterozygotic gene expression in endomyocardial biopsies: a new diagnostic tool confirms the Duchenne carrier status.
MedLine Citation:
PMID:  8481629     Owner:  NLM     Status:  MEDLINE    
Identification of the defective gene and the absent gene product dystrophin can substantiate the clinical evidence for manifesting X-linked Duchenne type muscular dystrophy (DMD). It is not always possible, however, to rule out definitely a clinically asymptomatic carrier status in question, since even in the proven carrier DNA analysis is often inconclusive, and multinucleated skeletal muscle fibers express a basically normal membrane dystrophin. To substantiate the value of endomyocardial biopsy as a new tool for detection of the DMD carrier status we examined an endomyocardial biopsy of a volunteer who met the clinical criteria of a DMD carrier. Dystrophin immunohistochemistry and western blot of her skeletal muscle biopsy were inconclusive, and polymerase chain reaction and cDNA analysis failed to locate directly the X-chromosomal defect. We observed a clearcut mosaic of dystrophin-positive and -negative mononucleated cardiac muscle cells, reflecting a heterozygote carrier status in her endomyocardial biopsy, whereas 20 controls were uniformely positive. The incidence of DMD (1:3000 males) and especially the 30% spontaneous mutation rate, still the major pitfall in DNA analysis, show the need for an additional diagnostic tool.
M Schmidt-Achert; P Fischer; W Müller-Felber; H Mudra; D Pongratz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Clinical investigator     Volume:  71     ISSN:  0941-0198     ISO Abbreviation:  Clin Investig     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-06-03     Completed Date:  1993-06-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9207154     Medline TA:  Clin Investig     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  247-53     Citation Subset:  IM    
Friedrich-Baur-Institut bei der Medizinischen Klinik, Ludwig-Maximilians-Universität München.
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MeSH Terms
Blotting, Western
Dystrophin / analysis
Gene Expression
Heterozygote Detection / methods*
Immunoenzyme Techniques
Muscular Dystrophies / genetics*,  pathology
Myocardium / chemistry,  pathology*
Reg. No./Substance:

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