Document Detail


Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected.
MedLine Citation:
PMID:  7825085     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in Cape Town in 1987. Of the 143 DMD patients diagnosed during the period 1987-1992, 66 had a familial pattern of inheritance and 77 were apparently sporadic. Twenty BMD patients were identified, of whom 12 had other affected relatives and 8 were sporadic. Overall minimum prevalence rates of 1/100,000 for DMD and 1/755,000 for BMD were calculated. A markedly low DMD prevalence in the indigenous black population (1/250,000) contributed to the overall low DMD prevalence in South Africa when compared with that in the UK (1/40,000). By means of molecular methods, the diagnosis in 42% of the affected DMD males was confirmed by detection of deletions in the dystrophin gene. Deletions were identified in 50% of Indian, white and mixed ancestry patients. In contrast, only 22% of blacks had identifiable deletions. DMD appears to be underrepresented in the black population; the low deletion frequency in this group suggests that unique mutations not detectable by methods used in this study may be more frequent in these patients than in the other populations. The increased DMD frequency in Indians corroborates findings reported from the UK.
Authors:
R Ballo; D Viljoen; P Beighton
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde     Volume:  84     ISSN:  0256-9574     ISO Abbreviation:  S. Afr. Med. J.     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1995-02-14     Completed Date:  1995-02-14     Revised Date:  2014-09-12    
Medline Journal Info:
Nlm Unique ID:  0404520     Medline TA:  S Afr Med J     Country:  SOUTH AFRICA    
Other Details:
Languages:  eng     Pagination:  494-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Deletion
Dystrophin / genetics
Ethnic Groups / genetics
Humans
Male
Muscular Dystrophies / diagnosis,  epidemiology*,  ethnology
Prevalence
South Africa / epidemiology
Chemical
Reg. No./Substance:
0/Dystrophin

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


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