Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy.
The genetic basis for myotonic dystrophy (DM) is a CTG trinucleotide repeat expansion. The number of CTG repeats commonly increases in affected individuals of successive generations, in association with anticipation. We identified a large DM family in which multiple members had minimal CTG repeat expansions, and in which the number of CTG repeats remained in the minimally expanded range through at least three, and possibly four, generations. This relative stability of minimal CTG repeat expansions may help to maintain the DM mutation in the population.
Simmons
Z
Z
Division of Neurology, The Pennsylvania State University College of Medicine, Hershey 17033, USA.
Thornton
C A
CA
Seltzer
W K
WK
Richards
C S
CS
D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D018911:Trinucleotide Repeats