Document Detail


Molecular analysis of human muscular dystrophies.
MedLine Citation:
PMID:  2882417     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The ability to map disease loci using restriction fragment length polymorphisms (RFLPs) identified by DNA probes has revolutionized molecular genetics. Duchenne and Becker muscular dystrophies have been shown to be localized within the same very small region of Xp21 on the human X chromosome. The mutation itself should soon be identified at the DNA level, which will permit a detailed analysis of the molecular defect at the biochemical level. Rapid progress has also been made in the study of myotonic dystrophy on chromosome 19. DNA markers closely linked to the mutant locus have been identified, making antenatal diagnosis possible in informative families. Autosomal recessive muscular dystrophies are more difficult to study, but the means to localize even these mutations is being developed. The next decade should prove to be an exciting one for those involved in the molecular analysis and clinical management of human muscular dystrophies.
Authors:
K E Davies; S Forrest; T Smith; S Kenwrick; S Ball; H Dorkins; M Patterson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Muscle & nerve     Volume:  10     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:    1987 Mar-Apr
Date Detail:
Created Date:  1987-05-05     Completed Date:  1987-05-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  191-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 19 / ultrastructure*
Genes, Recessive
Genetic Markers*
Humans
Muscular Dystrophies / genetics*
Mutation
Myotonic Dystrophy / genetics
Pedigree
Polymorphism, Restriction Fragment Length
X Chromosome / ultrastructure*
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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