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Muscle Nerve. 2010 Jun;41(6):879-82. doi: 10.1002/mus.21614.

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

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  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea, 110-744.


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 with sarcolemmal features and complete absence of LAMP-2 expression. To the best of our knowledge, this girl is one of the earliest-onset manifesting carriers of Danon disease with typical muscle pathology.

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