| Danon disease | |
|---|---|
| Other names | Lysosomal glycogen storage disease with normal acid maltase activity, formerly GSD-IIb, GSD due to LAMP-2 deficiency |
| Specialty | Endocrinology  |
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.[1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.[2] It is inherited in an X-linked dominant pattern.[1]
- ^ a b "OMIM Entry - # 300257 - DANON DISEASE". omim.org. Retrieved 2017-07-11.
- ^ Maron BJ, Roberts WC, Arad M, et al. (March 2009). "Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy". JAMA. 301 (12): 1253–1259. doi:10.1001/jama.2009.371. PMC 4106257. PMID 19318653.