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Article

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

Journal of molecular medicine (Berlin, Germany) - 1 Dec 2003

Kärkkäinen Satu, Miettinen Raija, Tuomainen Petri, Kärkkäinen Päivi, Heliö Tiina, Reissell Eeva, Kaartinen Maija, Toivonen Lauri, Nieminen Markku S, Kuusisto Johanna, Laakso Markku, Peuhkurinen Keijo

Abstract excerpt

Approximately 20-35% of cases of idiopathic dilated cardiomyopathy are familial. DCM-associated mutations have been reported in 13 genes including the desmin, delta-sarcoglycan, and metavinculin genes. This study screened for variants in these genes in Finnish patients with DCM. All coding region...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 14564412
DOI: 10.1007/s00109-003-0480-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14564412-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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