TīmeklisNM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) AND Danon disease Clinical significance: Pathogenic (Last evaluated: Aug 27, 2024) Review status: 1 star out of maximum of 4 stars Tīmeklis2024. gada 14. maijs · In addition, extra lysosome-related mechanisms have been reported in diseases including atherosclerosis, neurodegenerative diseases, pancreatitis, autoimmune disorders, lysosomal storage disorders, and cancer. There are some interesting similarities among these mechanisms.
Systemic AAV9.LAMP2B injection reverses metabolic and ... - Science
Tīmeklis2024. gada 11. janv. · It is caused by a deficiency of lysosomal-associated membrane protein 2 ( LAMP2 ). Two unrelated boys who presented with severe hypertrophic … Tīmeklis2016. gada 15. sept. · This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel … ftr security
Frontiers Case Report: Identification of Mutations in LAMP2 …
Tīmeklis2008. gada 1. jūn. · Background: Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Tīmeklis2024. gada 2. okt. · Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years … Tīmeklis2009. gada 25. marts · Conclusions LAMP2 cardiomyopathy is a profound disease process characterized by progressive clinical deterioration leading rapidly to cardiac death in young patients (<25 years). These observations underscore the importance of timely molecular diagnosis for predicting prognosis and early consideration of heart … gildan 42000 white