Document Detail


Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms.
MedLine Citation:
PMID:  2016086     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recent studies have shown the gene encoding creatine kinase isoform M (CKMM) to be very closely linked to the myotonic dystrophy (DM) locus on the long arm of chromosome 19. Given this close linkage to DM and the postulated role of CKMM in skeletal muscle contraction, the possibility of a defect in CKMM causing DM was investigated. CKMM cDNA was isolated from the skeletal muscle of an individual with DM. Sequencing of the CKMM cDNA from the DM chromosome 19 revealed two novel polymorphisms but no translationally significant mutation. This work rules out a defect in the coding segment of CKMM as a cause of DM in this family and, in light of genetic homogeneity shown to date for DM, probably in all cases of DM.
Authors:
J Bailly; A E MacKenzie; S Leblond; R G Korneluk
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  86     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-05-20     Completed Date:  1991-05-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  457-62     Citation Subset:  IM    
Affiliation:
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 19
Cloning, Molecular
Creatine Kinase / genetics*
DNA
Female
Humans
Isoenzymes
Male
Molecular Sequence Data
Myotonic Dystrophy / enzymology,  genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic*
Chemical
Reg. No./Substance:
0/Isoenzymes; 9007-49-2/DNA; EC 2.7.3.2/Creatine Kinase

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


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