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Article

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

Circulation - 20 May 1997

Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin J A

Abstract excerpt

BACKGROUND: X-linked dilated cardiomyopathy (XLCM) has previously been shown to be due to mutations in the dystrophin gene, which is located at Xp21. Mutations in the 5' portion of the gene, including the muscle promoter, exon 1, and the exon 1-intron 1 splice site, have been reported previously. The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin...

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Source

Identifiers

PMID: 9170407
DOI: 10.1161/01.cir.95.10.2434

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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.

Related research

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Research trail→

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Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.PMID 9170407Read ↗

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.Semantic proximity Read ↗

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[Mutations of the dystrophin gene in dilated cardiomyopathy].Semantic proximity Read ↗

X-linked dilated cardiomyopathy and the dystrophin gene.Semantic proximity Read ↗

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X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.Semantic proximity Read ↗

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