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Article

A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.

Journal of molecular and cellular cardiology - 1 Dec 1997

Bies R D, Maeda M, Roberds S L, Holder E, Bohlmeyer T, Young J B, Campbell K P

Abstract excerpt

5'-mutations in the dystrophin gene can result in cardiomyopathy without clinically-apparent skeletal myopathy. The effect of dystrophin mutations on the assembly and stability of the dystrophin associated protein (DAP) complex in human heart are not fully understood. The molecular defect in the dystrophin complex was explored in a family with an X-linked pedigree and severe dilated cardiomyopathy. Dystrophin...

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Identifiers

PMID: 9441825
DOI: 10.1006/jmcc.1997.0568

Genes

DAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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