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Article

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.

Circulation journal : official journal of the Japanese Circulation Society - 1 Oct 2007

Ogimoto Akiyoshi, Okubo Minoru, Okayama Hideki, Shin Yoon S, Endo Yoriko, Ebara Tetsu, Inoue Katsuji, Ohtsuka Tomoaki, Tahara Hideki, Murase Toshio, Higaki Jistuo

Abstract excerpt

Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or aortic stenosis. A 42-year-old Japanese man had LVH similar to that with hypertrophic cardiomyopathy. The patient was diagnosed with glycogen storage disease type IIIa...

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Identifiers

PMID: 17895567
DOI: 10.1253/circj.71.1653

Genes

AGL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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