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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3) ; volume:20 ; number:1 ; day:5 ; month:4 ; year:2019 ; pages:1-6 ; date:12.2019
BMC medical genetics ; 20, Heft 1 (5.4.2019), 1-6, 12.2019

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

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12881-019-0793-z

URN: urn:nbn:de:101:1-2019042522515713169647

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:55 AM CEST

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Associated

Pantou, Malena P.
Gourzi, Polyxeni
Gkouziouta, Aggeliki
Armenis, Iakovos
Kaklamanis, Loukas
Zygouri, Christianna
Constantoulakis, Pantelis
Adamopoulos, Stamatis
Degiannis, Dimitrios
SpringerLink (Online service)

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Restrictive cardiomyopathy is caused by a novel homozygous desmin $\it (DES)$ mutation p.Y122H leading to a severe filament assembly defect

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

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Other Objects (12)

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Restrictive cardiomyopathy is caused by a novel homozygous desmin \(\it (DES)\) mutation p.Y122H leading to a severe filament assembly defect

Genetic insights into primary restrictive cardiomyopathy

Recessive TMOD1 mutation causes childhood cardiomyopathy

Troponin Mutation Caused Diastolic Dysfunction and Experimental Treatment in Transgenic Mice with Cardiomyopathy

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Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy

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Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy

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Restrictive cardiomyopathy is caused by a novel homozygous desmin \(\it (DES)\) mutation p.Y122H leading to a severe filament assembly defect

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Recessive TMOD1 mutation causes childhood cardiomyopathy

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Restrictive cardiomyopathy is caused by a novel homozygous desmin \(\it (DES)\) mutation p.Y122H leading to a severe filament assembly defect

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