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Nat Genet. 1994 Dec;8(4):333-9.

Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy.

Author information

1
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.

Abstract

Two lines of transgenic mdx mice have been generated that express a 71 kD non-muscle isoform of dystrophin (Dp71) in skeletal muscle. This isoform contains the cysteine-rich and C-terminal domains of dystrophin, but lacks the N-terminal actin-binding and central spectrin-like repeat domains. Dp71 was associated with the sarcolemma membrane, where it restored normal expression and localization of all members of the dystrophin-associated glycoprotein complex. However, the skeletal muscle pathology of the transgenic mdx mice remained severe. These results indicate that the dystrophin C terminus cannot function independently to prevent dystrophic symptoms and confirms predictions based on patient data that both the N and C-terminal domains are required for normal dystrophin function.

PMID:
7894482
DOI:
10.1038/ng1294-333
[Indexed for MEDLINE]

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