Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

L. H. Yamaoka, M. A. Pericak-Vance, M. C. Speer, P. C. Gaskell, J. Stajich, C. Haynes, W. Y. Hung, C. Laberge, M. C. Thibault, J. Mathieu, A. P. Walker, R. J. Bartlett, Allen D. Roses

Research output: Contribution to journalArticle

9 Scopus citations


The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(θ̂) = 28.41; θ̂ = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)222-226
Number of pages5
Issue number2
StatePublished - Feb 1990
Externally publishedYes


ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Yamaoka, L. H., Pericak-Vance, M. A., Speer, M. C., Gaskell, P. C., Stajich, J., Haynes, C., Hung, W. Y., Laberge, C., Thibault, M. C., Mathieu, J., Walker, A. P., Bartlett, R. J., & Roses, A. D. (1990). Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. Neurology, 40(2), 222-226.