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Cone-rod dystrophy can be a manifestation of Danon disease

BACKGROUND: Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD). METHODS: Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing,...

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Detalles Bibliográficos
Autores principales: Thiadens, Alberta A. H. J., Slingerland, Niki W. R., Florijn, Ralph J., Visser, Gerhard H., Riemslag, Frans C., Klaver, Caroline C. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332371/
https://www.ncbi.nlm.nih.gov/pubmed/22290069
http://dx.doi.org/10.1007/s00417-011-1857-8