| Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands. | |
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MedLine Citation:
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PMID: 1733827 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations causing Duchenne muscular dystrophy (DMD) have a short survival. Therefore, birth and population prevalence are maintained by new mutations. The present inventory was made to estimate the birth and population prevalence rates of DMD in the Netherlands. Seven methods of case identification were used. Data on 496 definite, probable or possible DMD patients born since 1961, or alive on January 1, 1983, were obtained. Several methods gave an estimated ascertainment of more than 95%. The prevalence rate at birth of DMD was estimated at 23.7 x 10(-5) (1:4215) male live births (MLB) yearly. The prevalence rate in the male population on January 1, 1983 was 5.4 x 10(-5) (1:18496). About 1% of the males in this study may have autosomal recessive Duchenne-like muscular dystrophy. Until now there has been no convincing evidence for geographic differences in DMD prevalence at birth. A list of frequency studies of Duchenne muscular dystrophy is included. The DMD mutation rate calculated by the indirect method is 7.9 x 10(-5) genes per generation. However, this may well be an over-estimate, as this method does not account for germline mosaicism. Using a modified sex ratio method the proportion of sporadic DMD among all cases was estimated to be 0.106 (range 0-0.332). High frequency of germline mosaicism in DMD is a likely cause for the apparent lack of sporadic cases as found in previous studies, if mutation rates in male and female gametes are equal. Therefore, methods for estimating the proportion of new mutants in DMD should take germline mosaicism into account. The modified sex ratio method allows incorporation of data on germline mosaicism if available. |
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Authors:
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A J van Essen; H F Busch; G J te Meerman; L P ten Kate |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 88 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1992 Jan |
Date Detail:
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Created Date: 1992-03-04 Completed Date: 1992-03-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 258-66 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Groningen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cohort Studies Female Genetics, Population Humans Male Muscular Dystrophies / epidemiology*, genetics, mortality Netherlands / epidemiology Prevalence Survival Analysis |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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