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Article

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Muscle & nerve - 1 Jun 2010

Kim Hunmin, Cho Anna, Lim Byung Chan, Kim Min Jung, Kim Ki Joong, Nishino Ichizo, Hwang Yong Seung, Chae Jong-Hee

Abstract excerpt

Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13-year-old female patient with Danon disease who presented with early-onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the LAMP2 gene, and her muscles showed many autophagic vacuoles...

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Source

Identifiers

PMID: 20513107
DOI: 10.1002/mus.21614

Genes

LAMP2

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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