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Article

Titin mutation in familial restrictive cardiomyopathy.

International journal of cardiology - 15 Jan 2014

Peled Yael, Gramlich Michael, Yoskovitz Guy, Feinberg Micha S, Afek Arnon, Polak-Charcon Sylvie, Pras Elon, Sela Ben-Ami, Konen Eli, Weissbrod Omer, Geiger Dan, Gordon Paul M K, Thierfelder Ludwig, Freimark Dov, Gerull Brenda, Arad Michael

Abstract excerpt

BACKGROUND: Familial restrictive cardiomyopathy (RCM) caused by a single gene mutation is the least common of the inherited cardiomyopathies. Only a few RCM-causing mutations have been described. Most mutations causing RCM are located in sarcomere protein genes which also cause hypertrophic cardiomyopathy (HCM). Other genes associated with RCM include the desmin and familial amyloidosis genes. In the present...

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Source

Identifiers

PMID: 24315344
DOI: 10.1016/j.ijcard.2013.11.037

Genes

TTN

Variants

Provenance

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