ASSESSMENT OF A CREATINE-KINASE ISOFORM-M DEFECT AS A CAUSE OF MYOTONIC-DYSTROPHY AND THE CHARACTERIZATION OF 2 NOVEL CKMM POLYMORPHISMS

作者：BAILLY J; MACKENZIE AE; LEBLOND S; KORNELUK RG

来源：Human Genetics, 1991, 86(5): 457-462.

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 possiblity 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.

• 出版日期1991-3