Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms

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...

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Bibliographic Details
Published in:Human genetics 1991-03, Vol.86 (5), p.457-462
Main Authors: BAILLY, J, MACKENZIE, A. E, LEBLOND, S, KORNELUK, R. G
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Chromosomes, Human, Pair 19
Cloning, Molecular
Creatine Kinase - genetics
Diseases of striated muscles. Neuromuscular diseases
DNA
Female
Humans
Isoenzymes
Male
Medical sciences
Molecular Sequence Data
Myotonic Dystrophy - enzymology
Myotonic Dystrophy - genetics
Neurology
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00194633