A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André

Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André.

Afiliação

Jackson CB; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki FIN, Finland.
Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich CH, Switzerland.
Bolognini R; University Children's Hospital Basel, University of Basel, Switzerland.
Martin F; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern CH, Switzerland.
Szinnai G; CNRS, Architecture et Réactivité de l'ARN, Université de Strasbourg, UPR 9002, Strasbourg F, France.
Donner BC; University Children's Hospital Basel, University of Basel, Switzerland.
Richter U; Division of Pediatric Endocrinology, University Children's Hospital Basel, Basel CH, Switzerland.
Battersby BJ; Division of Cardiology, University of Basel, Basel CH, Switzerland.
Nuoffer JM; Institute of Biotechnology, University of Helsinki, Helsinki, FIN, Finland.
Suomalainen A; Institute of Biotechnology, University of Helsinki, Helsinki, FIN, Finland.
Schaller A; Institute of Clinical Chemistry, University of Bern, Inselspital, Bern CH, Switzerland.

Hum Mol Genet ; 28(4): 639-649, 2019 02 15.

Article em En | MEDLINE | ID: mdl-30358850

Assuntos

Cardiomiopatia Hipertrófica/genética; Mitocôndrias/genética; Doenças Mitocondriais/genética; Proteínas Ribossômicas/genética; Acidose Láctica/genética; Acidose Láctica/metabolismo; Acidose Láctica/patologia; Sequência de Aminoácidos/genética; Cardiomiopatia Hipertrófica/metabolismo; Cardiomiopatia Hipertrófica/patologia; Criança; Pré-Escolar; Complexo IV da Cadeia de Transporte de Elétrons/genética; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Homozigoto; Humanos; Lactente; Recém-Nascido; Mitocôndrias/metabolismo; Doenças Mitocondriais/patologia; Ribossomos Mitocondriais/metabolismo; Ribossomos Mitocondriais/patologia; Mutação; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Cardiomiopatia Hipertrófica / Doenças Mitocondriais / Mitocôndrias Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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