[Manifesting carriers of Duchenne muscular dystrophy over two generations].
We report a family with manifesting DMD carriers over two generations. Sixty years old female (case 1) suffered from slowly progressive weakness since her thirties. Her youngest daughter aged 30 (case 2) had cramping calf muscle pain since her 5 years old. Progressive muscle weakness developed and lost her ambulation by the age of 20. Grandson of case 1 (son of case 1's eldest daughter who has no clinical symptoms) was diagnosed as DMD with deletion of exon 19-21 in dystrophin gene. Case 1 and case 2 were revealed to be DMD carriers. We speculate that, in this family, X-inactivation process was not random and paternal X was preferentially inactivated by maternal mutant X.
Itagaki
Y
Y
Department of Pediatrics, Utano National Hospital.
Saida
K
K
Nishitani
H
H
Matsuo
M
M
Nishio
H
H
D000328:Adult; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D016189:Dystrophin