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

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

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

Afiliação

Pantou MP; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece.
Gourzi P; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece. gourzi@ocsc.gr.
Gkouziouta A; Heart Failure, MCS and Transplant Unit, Onassis Cardiac Surgery Center, Athens, Greece.
Armenis I; Heart Failure, MCS and Transplant Unit, Onassis Cardiac Surgery Center, Athens, Greece.
Kaklamanis L; Department of Pathology, Onassis Cardiac Surgery Center, Athens, Greece.
Zygouri C; Department of Molecular Genetics, BioAnalytica-Genotypes S.A, Athens, Greece.
Constantoulakis P; Department of Molecular Genetics, BioAnalytica-Genotypes S.A, Athens, Greece.
Adamopoulos S; Heart Failure, MCS and Transplant Unit, Onassis Cardiac Surgery Center, Athens, Greece.
Degiannis D; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece.

BMC Med Genet ; 20(1): 61, 2019 04 05.

Article em En | MEDLINE | ID: mdl-30953456

Assuntos

Cardiomiopatias/genética; Genes Recessivos; Mutação; Troponina I/genética; Adulto; Feminino; Genótipo; Humanos; Masculino; Linhagem

Palavras-chave

Autosomal recessive; Cardiac troponin I; Case report; Mutation; Restrictive cardiomyopathy; TNNI3

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Troponina I / Genes Recessivos / Mutação / Cardiomiopatias Limite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Grécia

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