论文信息 - Cone-rod dystrophy can be a manifestation of Danon disease - 字舞流文

Cone-rod dystrophy can be a manifestation of Danon disease

C. Klaver | F. Riemslag | G. Visser | A. Thiadens | R. Florijn | N. W. R. Slingerland

[1] M. Bach,et al. ISCEV Standard for full-field clinical electroretinography (2008 update) , 2009, Documenta Ophthalmologica.

[2] E. Aronica,et al. EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE , 2008, Neurology.

[3] D. Schorderet,et al. Retinopathy in Danon disease. , 2007, Archives of ophthalmology.

[4] L. Mestroni,et al. Ophthalmic manifestations of Danon disease. , 2006, Ophthalmology.

[5] A. Milam,et al. Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. , 2005, American journal of ophthalmology.

[6] M. Komajda,et al. Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease , 2004, Neurology.

[7] E. Uro-Coste,et al. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation , 2002, Neuromuscular Disorders.

[8] M. Fukuda,et al. The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon organization in two genes. , 1993, The Journal of biological chemistry.

[9] J. Stockman. Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy , 2011 .