Cone-rod dystrophy in Danon disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s00417-012-1936-5.pdf
Reference6 articles.
1. Thiadens A, Slingerland N, Florijn R, Visser G, Riemslag F, Klaver C (2012) Cone-rod dystrophy can be a manifestation of Danon disease. Graefes Arch Clin Exp Ophthalmol. doi: 10.1007/s00417-011-1857-8
2. Antopol W, Boas EP, Levison W, Tuchman LR (1940) Cardiac hypertrophy caused by glycogen storage disease in a 15-year-old boy. Am Heart J 20:546–556
3. Lacoste-Collin L, Garcia V, Uro-Coste E, Arné-Bes MC, Durand D, Levade T, Delisle MB (2002) Danon’s disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. Neuromuscul Disord 12(9):882–885
4. Laforet P, Charron P, Masonobe T, Romero NB, Villard E, Sebillon P, Drouin-Garraud V, Dubourg O, Fardeay M, Komajda M, Eymard B (2004) Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. Neurology 63(8):1535
5. Prall R, Drack A, Taylor M, Ku L, Olson JL (2006) Ophthalmic manifestations of Danon disease. Ophthalmology 113(6):1010–1013
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1. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene;Ophthalmic Genetics;2019-05-04
2. Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma;Molecular Medicine Reports;2017-03
3. Danon Disease;Circulation: Heart Failure;2014-09
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