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Article

Mild form of Danon disease: two case reports.

Neuromuscular disorders : NMD - 1 Nov 2021

Yasui Toshio, Nagaoka Utako, Oya Yasushi, Uruha Akinori, Karashima Jun, Funai Asuka, Miyamoto Kazuhito, Matsubara Shiro, Sugaya Keizo, Takahashi Kazushi, Inoue Michio, Okubo Mariko, Sugie Kazuma, Nishino Ichizo

Abstract excerpt

Danon disease is typically lethal by the mid-twenties in male patients due to cardiomyopathy. This report aims to describe two unrelated male patients showing mild manifestations of the disease. A 39-year-old man presented with a 10-year history of elevated serum creatine kinase levels with slowly progressive muscle weakness. Muscle pathology showed autophagic vacuoles with sarcolemmal features. Genetic testing...

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Identifiers

PMID: 34702653
DOI: 10.1016/j.nmd.2021.07.017

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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