- A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
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Park SY, Park DG, Choi HH, Yoon DH, Kim SE, Lee JH, Han KR, Oh DJ
- KMID: 1473770
- J Cardiovasc Ultrasound.
- 2009 Mar;17(1):28-30.
- doi: 10.4250/jcu.2009.17.1.28
Danon disease is characterized clinically by the triad of cardiomyopathy, myopathy and mental retardation. It was originally reported as a lysosomal glycogen storage disease with normal acid maltase by Danon.... -
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- Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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Gill I, Kim JH, Moon JH, Kim YJ, Kim NS
- KMID: 2435947
- J Genet Med.
- 2018 Dec;15(2):87-91.
- doi: 10.5734/JGM.2018.15.2.87
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of... -
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- Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves
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Finsterer , Stöllberger C
- KMID: 2344462
- Korean Circ J.
- 2016 Mar;46(2):117-134.
- doi: 10.4070/kcj.2016.46.2.117
Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity... -
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