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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....

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9170407-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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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 ↗

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated CardiomyopathySemantic proximity Read ↗

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.Semantic proximity Read ↗

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

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

Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.Semantic proximity Read ↗

[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].Semantic proximity Read ↗

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

[Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin].Semantic proximity Read ↗

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

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