Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.
Dystrophin is the gene product that is affected in Duchenne muscular dystrophy (DMD). Antibodies against dystrophin were used to study the protein in muscle fibers of carriers of the gene. The results showed that DMD carriers have normal and dystrophin-deficient fibers. Dystrophin immunohistochemistry may be helpful for the detection of DMD carriers.
Bonilla
E
E
Department of Neurology, College of Physicians & Surgeons, Columbia University, Columbia Presbyterian Medical Center, New York, New York.
Schmidt
B
B
Samitt
C E
CE
Miranda
A F
AF
Hays
A P
AP
de Oliveira
A B
AB
Chang
H W
HW
Servidei
S
S
Ricci
E
E
Younger
D S
DS
D000328:Adult; D001706:Biopsy; D016189:Dystrophin; D005260:Female; D005455:Fluorescent Antibody Technique; D005629:Frozen Sections; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009124:Muscle Proteins / Q000032:analysis*; D009132:Muscles / Q000032:analysis* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology
D016189:Dystrophin; D009124:Muscle Proteins