Document Detail

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.
MedLine Citation:
PMID:  8317263     Owner:  NLM     Status:  MEDLINE    
DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular dystrophies could be established and some unusual pedigrees detected.
I Hausmanowa-Petrusewicz; J Zaremba; A Fidziańska; J Zimowski; M Bisko; B Badurska; E Fidziańska; A Lusakowska; J Borkowska
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta neurobiologiae experimentalis     Volume:  53     ISSN:  0065-1400     ISO Abbreviation:  Acta Neurobiol Exp (Wars)     Publication Date:  1993  
Date Detail:
Created Date:  1993-07-29     Completed Date:  1993-07-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  1246675     Medline TA:  Acta Neurobiol Exp (Wars)     Country:  POLAND    
Other Details:
Languages:  eng     Pagination:  297-303     Citation Subset:  IM    
Neuromuscular Unit, Polish Academy of Sciences, Warsaw.
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MeSH Terms
Child, Preschool
Chromosome Mapping
DNA Probes
Dystrophin / genetics*
Middle Aged
Muscular Dystrophies / genetics*
Reg. No./Substance:
0/DNA Probes; 0/Dystrophin

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