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Article

Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Journal of human genetics - 1 Jan 2007

Taylor Matthew R G, Ku Lisa, Slavov Dobromir, Cavanaugh Jean, Boucek Mark, Zhu Xiao, Graw Sharon, Carniel Elisa, Barnes Carl, Quan Dianna, Prall Ryan, Lovell Mark A, Mierau Gary, Ruegg Patsy, Mandava Naresh, Bristow Michael R, Towbin Jeffrey A, Mestroni Luisa

Abstract excerpt

X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the ly...

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Source

Identifiers

PMID: 17899313
DOI: 10.1007/s10038-007-0184-8

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17899313-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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