WebM.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation Web1 mai 2024 · Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, …
Danon disease: Case report and detection of new mutation
WebAbstract. Danon disease, an X-linked dominant disorder, results from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene and presents with hypertrophic … Web1 iul. 2007 · The discovery of LAMP-2 deficiency in Danon disease ushered a new group of lysosomal diseases, those due to defects in lysosomal structural proteins rather than … phillipines ww2 battle site
(PDF) M.P.4.11 Extension of the clinical spectrum of Danon’s disease…
WebKeywords Danon disease; IQ; cognition; psychiatric comorbidities; LAMP2; Cardiomyopathy; Wolff- Parkinson-White syndrome Introduction Danon disease (DD) is an X-linked metabolic disorder, also referred to as lysosomal glycogen storage disease (type IIb or Pompe with normal acid maltase; Danon et al., 1981). Web1 mar. 2016 · Danon disease has been associated with mutations in the lysosome-associated membrane glycoprotein 2 (LAMP2) gene located at Xq24, typically resulting … WebMalfunctioning LAMP2 (classified as Danon's disease) and adenosine monophosphate (AMP)-activated kinase gamma 2 proteins (PRKAG2) can result in glycogen accumulation in heart and skeletal muscle. Between the ages of 8 and 15 years, patients with LAMP2 deficiency typically present with chest pain, heart palpitations, syncope, and cardiac arrest. phillip in glass onion