Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

Abstract

We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22.8 at a recombination frequency (theta) of 0.03 was obtained. Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy.

3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations

“…Linkage studies and informativity of C K M M in D M families from North America, Canada, The Netherlands and Finland have been reported. They provide suitable information for D M diagnostic programs (Brunner et al 1989;Nokelainen et al 1990; Y a m a o k a et al. 1990).…”

“…A combined physical and genetic map showed that the markers most closely linked to D M reside in chromosomal region of about 5 Mb ( L e B e a u et al 1989;Smeets et al 1990). The muscle-specific creatine kinase ( C K M M ) gene (Perryman et al 1986;Stallings et al 1988) is the most thightly linked marker currently used for presymptomatic and prenatal diagnosis of this disease (Brunner et al 1989; Y a m a o k a et Gennarelli et al 1990). Linkage studies and informativity of C K M M in D M families from North America, Canada, The Netherlands and Finland have been reported.…”

Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region

“…Combining genetic and physical mapping data has localized the DM gene locus to an area on 19q distal to CKMM and proximal to the D19S50 locus recog nized by a VNTR marker at 19q 13.2 ->q 13.3 (Brunner et al" 1989a;Korneluk et al. 1989: LeBeau et al" 1989Smeets et al" 1989).…”

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

“…Harper 1989;Myklebost et Rogne 1989;Brunner et al 1989;Komeluk et al 1989a,b;MacKenzie et al 1989;Smeets et al 1990;Brook et al 1991). …”