Danon disease: Further clinical and molecular heterogeneity

@article{Sabourdy2009DanonDF,
  title={Danon disease: Further clinical and molecular heterogeneity},
  author={Fr{\'e}d{\'e}rique Sabourdy and Helen Michelakakis and Aris Anastasakis and Virginie Garcia and Irene Mavridou and Mich{\`e}le Nieto and M. Pons and Constantinos Skiadas and Marina Moraitou and Panagiota Manta and Milan Elleder and Thierry Levade},
  journal={Muscle \& Nerve},
  year={2009},
  volume={39}
}
Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried by one patient (c.928G>A) has already been reported but with different symptoms. The second patient had a novel point deletion. This has not been described previously, but it could be detected easily by restriction analysis. This mutation was also… Expand
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TLDR
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TLDR
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TLDR
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Natural history of Danon disease
TLDR
Patients with Danon disease present with clinical symptoms and events approximately 15 years after men and report a higher proportion of cognitive and skeletal muscle problems than previously recognized, which should prove useful to physicians working with and providing genetic counseling to families withDanon disease. Expand
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Clinical Aspects and Genetics of Cardiomyopathies
TLDR
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References

SHOWING 1-10 OF 35 REFERENCES
Danon disease: A novel Lamp-2 gene mutation in a family with four affected members
TLDR
This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy, which reveals a defect located at the second nucleotide in the intron 8 of the Lamp-2 gene that generated exon 8 skipping confirmed at RNA level in the proband. Expand
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
TLDR
Two cases of Danon disease with different clinical presentation are described, in whom the same exon skipping mutation c.928G>A in the LAMP-2 gene is identified, and in both patients the immunohistochemical study demonstrated the absence of Lamp-2 in skeletal muscle. Expand
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
TLDR
A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers, and a novel S157X mutation in exon 4 of LAMP-2 was found. Expand
Danon disease presenting with dilated cardiomyopathy and a complex phenotype
TLDR
It is concluded that XLCM may be the presenting sign of Danon disease and, in the presence of a familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Expand
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene
TLDR
Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option. Expand
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene
TLDR
A new Italian case with persistent hyperCKemia, exercise intolerance and hypertrophic cardiomyopathy but with no muscle weakness or mental impairment is described, and a new nucleotide substitution (T961C) on exon 8 of lamp-2 gene was identified as responsible for the protein deficiency. Expand
Danon disease with typical early‐onset cardiomyopathy in a male: Focus on a novel LAMP‐2 mutation
TLDR
DNA analysis ultimately identified a previously unreported hemizygous IVS6+3_+6delGAGT splice site deletion mutation in the LAMP‐2 gene located within the 5′splice site of intron 6, consistent with Danon disease. Expand
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation
TLDR
This patient displays the typical clinical triad, with cardiomyopathy, mental retardation and myopathy, and a vacuolar myopathy without acid alpha-glucosidase deficiency, and represents the second case of successful heart transplantation in this lysosomal disease. Expand
Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey
TLDR
Interestingly, Danon’s disease was responsible for half of the cases (two of four) with HCM and clinical skeletal myopathy but was not involved in isolated HCM (none of 41). Expand
EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE
TLDR
Danon disease is an X-linked dominant disorder characterized by severe cardiomyopathy, mental retardation, and mild myopathy in men, and cardiopathy in female carriers. Expand
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