Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
The majority of Duchenne muscular dystrophy (DMD) female carriers show dystrophin immunostaining abnormalities, although a significant proportion of clinically non-manifesting carriers are normal following this analysis. We had the opportunity to study dystrophin immunostaining in two different muscles, the vastus lateralis and the rectus abdominis of a possible DMD carrier. While the vastus showed normal dystrophin immunostaining, pathological staining was detected in her rectus abdominis. These findings seem to indicate that dystrophin expression can vary in different muscle groups of a DMD carrier. The implications of these findings in DMD carrier detection and possible dystrophin function are discussed.
Muntoni
F
F
Instituto di Neuropsichiatria Infantile, Cagliari, Italy.
Mateddu
A
A
Marrosu
M G
MG
Cau
M
M
Congiu
R
R
Melis
M A
MA
Cao
A
A
Cianchetti
C
C
D000328:Adult; D016189:Dystrophin / Q000032:analysis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D016189:Dystrophin