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Article

Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.

Acta cardiologica - 1 Aug 2004

Finsterer Josef, Schoser Benedikt, Stöllberger Claudia

Abstract excerpt

BACKGROUND: Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD). CASE REPORT: In a 53-year-old man with easy fatigability and myalgia since boyhood, primary MADD was diagnosed based upon slightly, but recurrently elevated creatine-kinase,...

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Source

Identifiers

PMID: 15368811
DOI: 10.2143/AC.59.4.2005215

Genes

MADD
AMPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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