Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy.
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
Saumya
S
Shah
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
Haran
H
Yogasundaram
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
Ratnadeep
R
Basu
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
Faqi
F
Wang
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
David I
DI
Paterson
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).
Tero-Pekka
TP
Alastalo
From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.). gavin.oudit@ualberta.ca.
Gavin Y
GY
Oudit
D000328:Adult; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D019210:Troponin I / Q000235:genetics*; D020107:Troponin T / Q000235:genetics
D019210:Troponin I; D020107:Troponin T
cardiomyopathy; genetic testing; heart failure; hemodynamics; mutation; troponin I