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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,
Danon disease is due to primary deficiency of lysosome-associated membrane protein-2.
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,
Mutations in X-linked lysosome-associated membrane protein gene (LAMP2; Danon disease) produce a cardiomyopathy in young patients that clinically mimics severe hypertrophic cardiomyopathy (HCM) due to sarcomere protein mutations. However, the natural history and phenotypic expression of this newly recognized disease is incompletely resolved and its identification may have important clinical implications.
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,
To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.
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, ,
X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. The broad phenotype in this family included dilated and hypertrophic cardiomyopathy, cardiac pre-excitation, skeletal myopathy with high serum creatinine kinase, cognitive impairement (in males), and and a pigmentary retinopathy in affected females. Cardiac biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. We conclude that XLCM may be the presenting sign of Danon disease and, in the presence of familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease.
Journal of human genetics - 2007