Danon disease

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Prevalence (%) of clinical parameters based on data from 4 references describing 54 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiomyopathy circulatory 100 % 12084876 2011-10-19
Cardiomyopathy circulatory 100 % 19318653 2011-10-10
Retinitis pigmentosa nervous 100 % 16751040 2011-10-10
Cardiomyopathy circulatory 100 % 17899313 2011-10-10
Myopathy skeletal 100 % 17899313 2011-10-10
Muscle weakness skeletal 100 % 17899313 2011-10-10
Developmental delay nervous 100 % 17899313 2011-10-10
Cardiac arrhythmia circulatory 75 % 17899313 2011-10-10
Increased blood CK circulatory 71 % 19318653 2011-10-10
Myopathy skeletal 63 % 12084876 2011-10-10
Retinitis pigmentosa nervous 50 % 17899313 2011-10-10
Mental retardation nervous 39 % 12084876 2011-10-10

List of references:

Clinicopathological features of genetically confirmed Danon disease.
K Sugie, A Yamamoto, K Murayama, S J Oh, M Takahashi, M Mora, J E Riggs, J Colomer, C Iturriaga, A Meloni, C Lamperti, S Saitoh, E Byrne, S DiMauro, I Nonaka, M Hirano, I Nishino,

Neurology - Jun 2002

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
Barry J Maron, William C Roberts, Michael Arad, Tammy S Haas, Paolo Spirito, Gregory B Wright, Adrian K Almquist, Jeanne M Baffa, J Philip Saul, Carolyn Y Ho, Jonathan Seidman, Christine E Seidman,

JAMA - Mar 2009

Ophthalmic manifestations of Danon disease.
F Ryan Prall, Arlene Drack, Matthew Taylor, Lisa Ku, Jeffrey L Olson, Darren Gregory, Luisa Mestroni, Naresh Mandava,

Ophthalmology - Jun 2006

Danon disease presenting with dilated cardiomyopathy and a complex phenotype.
Matthew R G Taylor, Lisa Ku, Dobromir Slavov, Jean Cavanaugh, Mark Boucek, Xiao Zhu, Sharon Graw, Elisa Carniel, Carl Barnes, Dianna Quan, Ryan Prall, Mark A Lovell, Gary Mierau, Patsy Ruegg, Naresh Mandava, Michael R Bristow, Jeffrey A Towbin, Luisa Mestroni, ,

Journal of human genetics - 2007