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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 in all muscle fibers. In immunoblot studies we found dystrophin of abnormal size (160 kDa) and normal amount (about...

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Identifiers

PMID: 8761273
DOI: 10.1002/mus.880190902

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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