Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

doi:10.1002/mus.880190902

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Article

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

Muscle & nerve - 1 Sept 1996

Fanin M, Freda M P, Vitiello L, Danieli G A, Pegoraro E, Angelini C

Abstract excerpt

In a 9-year-old boy with Duchenne muscular dystrophy we found a large in-frame deletion, spanning exons 10 to 53 of the dystrophin gene. The deletion removed almost all of the central rod domain of dystrophin. Using carboxyterminal dystrophin antibodies the immunohistochemical reaction was normal...

Topics

Blotting, Western
Child
Differential Threshold
Dystrophin
Fluorescent Antibody Technique, Indirect
Gene Deletion
Humans
Male
Models, Biological
Muscles
Muscular Dystrophies
Phenotype
Reading Frames

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