C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C40B 30/04 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01) A61N 1/372 (2006.01) C07K 14/705 (2006.01) C12N 15/12 (2006.01)
Patent
CA 2647856
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.
Connors Sean
French Vanessa
Haywood Annika
Hodgkinson Kathy
Merner Nancy
Bereskin & Parr Llp/s.e.n.c.r.l.,s.r.l.
Genesis Group Inc.
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