DIAGNOSTIC TEST FOR CARDIOMYOPATHY

Methods and compositions relating to diagnosing and treating caridomyopathy and particularly relating to methods and compositions for diagnosing and treating arrhythmogenic right ventricular dysplasia/cardiomyophathy (ARVD/C) are described. Provided are methods for screening for, diagnosing or detec...

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Hauptverfasser:	PARFREY, PATRICK, MERNER, NANCY, YOUNG, TERRY-LYNN, HAYWOOD, ANNIKA, CONNORS, SEAN, FRENCH, VANESSA, HODGKINSON, KATHY
Format:	Patent
Sprache:	eng ; fre
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMBINATORIAL CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA DERIVATIVES THEREOF ELECTROTHERAPY ENZYMOLOGY HUMAN NECESSITIES HYGIENE INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES LIBRARIES, e.g. CHEMICAL LIBRARIES, IN SILICOLIBRARIES MAGNETOTHERAPY MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PEPTIDES PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS RADIATION THERAPY SPIRITS SUGARS TESTING ULTRASOUND THERAPY VINEGAR WINE
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Beschreibung
Zusammenfassung:	Methods and compositions relating to diagnosing and treating caridomyopathy and particularly relating to methods and compositions for diagnosing and treating arrhythmogenic right ventricular dysplasia/cardiomyophathy (ARVD/C) are described. Provided are methods for screening for, diagnosing or detecting a risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) comprising detecting the presence of a transmembrane protein 43 (TMEM43) disease associated variant in a sample of a subject, wherein the presence of a TMEM43 disease variant is indicative that the subject has ARVD/C or an increased risk of developing ARVD/C compared to an individual having wild type TMEM43. Des procédés et des compositions relatifs au diagnostic et au traitement de myocardiopathies, et plus particulièrement des procédés et des compositions permettant de diagnostiquer et de traiter la dysplasie ventriculaire droite arythmogène/myocardiophathie (DVDA/C) sont décrits. On fournit des procédés de dépistage, de diagnostic ou de détection dun risque de développer une dysplasie ventriculaire droite arythmogène/myocardiophathie (DVDA/C), comprenant la détection de la présence dune variante associée à la maladie de la protéine transmembranaire 43 (TMEM43) dans un échantillon dun sujet. La présence dune variante de la maladie TMEM43 indique que le sujet est atteint de DVDA/C ou présente un risque accru de développer une DVDA/C par rapport à une personne qui présente un type sauvage de TMEM43.