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Article

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

Human molecular genetics - 1 Jan 1993

Vainzof M, Takata R I, Passos-Bueno M R, Pavanello R C, Zatz M

Abstract excerpt

The severe Duchenne muscular dystrophy (DMD) and the more benign Becker type (BMD) are allelic conditions, controlled by a defective gene at Xp21, caused by the absence (DMD) or a defect in quantity or quality (BMD) of the protein dystrophin. It has been suggested that the C-terminus domain of dystrophin is fundamental to ensure the proper protein sub-cellular localization and function. We wish to report our...

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Source

Identifiers

PMID: 8490621
DOI: 10.1093/hmg/2.1.39

Genes

DMD

Provenance

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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Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?PMID 8490621Read ↗

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.Semantic proximity Read ↗

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Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.Semantic proximity Read ↗

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

Phenotypic Duchenne muscular dystrophy with C-terminal domain.Semantic proximity Read ↗

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.Semantic proximity Read ↗

Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.Semantic proximity Read ↗

Characterization of deletions in the dystrophin gene giving mild phenotypes.Semantic proximity Read ↗

ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan.Semantic proximity Read ↗

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