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Multisystemic lamp-2 defect in danon disease

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 https://mantei1.com

(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

LAMP2 gene: MedlinePlus Genetics

Category:LAMP2 - an overview ScienceDirect Topics

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Multisystemic lamp-2 defect in danon disease

LAMP2 gene: MedlinePlus Genetics

WebDanon disease is a severe X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Clinical manifestations are phenotypically … WebNormal Function The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials.

Multisystemic lamp-2 defect in danon disease

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Web1 iun. 2016 · ABSTRACT Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. WebEnter the email address you signed up with and we'll email you a reset link.

WebLAMP-2 protein deficiency was detectable in various tissues indicating that the biochemical diagnosis can be obtained on leukocytes and might be used for screening in male … WebAbstract Introduction: Danon disease is an extremely rare X-linked dominant disorder characterized by progressive cardiomyopathy, muscle weakness, and mild mental retardation. Most cases harbor nonsense, frameshift, or splice-site mutations in LAMP2 that result in lysosome-associated membrane protein-2 (LAMP-2) deficiency and lysosomal …

WebLAMP-2 protein deficiency was detectable in various tissues indicating that the biochemical diagnosis can be obtained on leukocytes and might be used for screening in male … Web1 iun. 2016 · Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems.

Webmembrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease.LAMP-2 deficient mice manifest a similar vacuolar cardioskeletal …

Web1 feb. 2008 · Danon disease is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This protein is encoded by the Lamp-2 gene that maps … tryout new courseWebTo investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with … try out names and pronounsWebLAMP-2 is required for the maturation of autophagosomes by fusion with lysosomes; therefore, LAMP-2 deficiency leads to a failure in macroautophagy. There are three … try out newWebDownload Table CLINICAL AND MOLECULAR DATA from publication: Multisystemic LAMP-2 defect in Danon disease Danon disease is an X-linked dominant disorder … phillip inhoferWeb9 feb. 2024 · Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than females. try out new fontsWeb1 mai 2024 · It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagic vacuoles containing glycogen granule deposits in skeletal and cardiac muscle fibers. So far, more than 50 different mutations in LAMP2 have been identified. Case presentation: phillip ingram defenceWebMultisystemic LAMP-2 defect in Danon disease Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene … phillip ingle morgan stanley