A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)-Reference-Cited by-同舟云学术

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

Published:2019-04-05 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Pantou Malena P.,Gourzi Polyxeni^ORCID,Gkouziouta Aggeliki,Armenis Iakovos,Kaklamanis Loukas,Zygouri Christianna,Constantoulakis Pantelis,Adamopoulos Stamatis,Degiannis Dimitrios

Funder

Onassis Cardiac Surgery Center

BioAnalytica-Genotypes S.A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0793-z.pdf

Reference22 articles.

1. Hughes SE, McKenna WJ. New insights into the pathology of inherited cardiomyopathy. Heart. 2005;91:257–64.

2. Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, Nelson SM, Rodeheffer RJ, Olson TM. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet. 2008;74:445–54.

3. Huby AC, Mendsaikhan U, Takagi K, Martherus R, Wansapura J, Gong N, Osinska H, James JF, Kramer K, Saito K, Robbins J, Khuchua Z, Towbin JA, Purevjav E. Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. J Am Coll Cardiol. 2014;64:2765–76.

4. Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, FORGE Canada Consortium, Gerull B. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2016;37:269–79.

5. Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003;111:209–16.

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