[Effects of CTG repeat expansion on quantitative muscle histopathology in myotonic dystrophy].
The CTG trinucleotide repeat (CTG repeat) length in leukocytes and muscles shows significant correlations with muscle weakness, an increase in type 1 fiber proportion, and reductions in type 2A and 2B fiber proportions in patients with myotonic dystrophy (DM). The correlations are generally greater for CTG repeat length in muscles than in leukocytes. However, relatively small absolute values of correlation coefficients (r2 = 0.13-0.43) suggest that the CTG repeat length is not a role variable that may explain clinical and histopathological changes in DM patients.
Utsugisawa
K
K
Department of Neurology, Iwate Medical University.
Yamagata
M
M
Nagane
Y
Y
Tohgi
H
H
D000328:Adult; D000375:Aging / Q000235:genetics; D005260:Female; D006801:Humans; D007962:Leukocytes; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology*; D065636:Myotonin-Protein Kinase; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases; D012720:Severity of Illness Index; D018911:Trinucleotide Repeats
C585517:DMPK protein, human; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases