Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on November 13, 2012 at 3:18pm by Madeleine Ball.
Edited in this revision:
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML,
Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ,
Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss
HP, Chien KR. The cardiac mechanical stretch sensor machinery involves a Z disc
complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002
Dec 27;111(7):943-55. PubMed PMID: 12507422.
Seen in 10 out of 526 DCM cases with European ethnic origin, and not seen in 320 age-matched European controls.