Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

@article{Nishino2000PrimaryLD,
  title={Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)},
  author={Ichizo Nishino and Jin Fu and Kurenai Tanji and Takeshi Yamada and Sadatomo Shimojo and Tateo Koori and Marina Mora and Jack E Riggs and Shin J Oh and Yasutoshi Koga and Carolyn M. Sue and Ayaka Yamamoto and Nobuyuki Murakami and Sara Shanske and Edward Byrne and Eduardo Bonilla and Ikuya Nonaka and Salvatore Dimauro and Michio Hirano},
  journal={Nature},
  year={2000},
  volume={406},
  pages={906-910}
}
“Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells. Sarcolemmal proteins and basal lamina are associated with the vacuolar membranes. Here we report ten unrelated patients, including one of the… Expand
Danon disease: a phenotypic expression of LAMP-2 deficiency
TLDR
The most striking finding in muscle biopsy samples is small basophilic granules scattered in myofibers, which are in fact small autophagic vacuoles surrounded by membranes with sarcolemmal features characterized by the recruitment of sarcoelmmal proteins and acetylcholine esterase and by the presence of basal lamina on its luminal side. Expand
Lysosomal Membrane Disorders: LAMP-2 Deficiency
TLDR
Patients with Danon disease typically show a triad of findings: hypertrophic cardiomyopathy, muscle weakness, and mental retardation, and heart transplantation should be considered as early as possible due to its rapid progression. 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
Disease model: LAMP-2 enlightens Danon disease.
TLDR
LAMP-2 deficient mice represent a valuable animal model of Danon disease and will be used to study the exact role of LAMP- 2 in autophagy and to analyse the consequences of an impaired autophagic pathway in various tissues. 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 disease: a case report and literature overview].
TLDR
This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation, which indicates a genetic basis for HCM. Expand
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
TLDR
In the female patient, muscle histopathology and LAMP-2 protein analysis was inconclusive, indicating that diagnosis in females requires mutation identification, and the random X-chromosome inactivation found in muscle and leukocytes excluded the possibility that selective involvement of some tissues in females is due to skewed X-chrome inactivation. Expand
Danon disease
TLDR
The aim was to perform a systematic review of Danon disease, provide a comprehensive clinical and molecular update, and propose diagnostic and management guidelines for clinicians and researchers working with patients withDanon disease. Expand
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
Danon disease is an X-linked lysosomal disorder, characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. We report a family with a novel mutation, in which the motherExpand
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease
TLDR
An autopsy case of genetically confirmed Danon disease with an exon-6-skipping mutation is reported, with a genetic confirmation of LAMP-2 deficiency and clinical manifestations of this case described previously. Expand
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