Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour, M A; Staretz-Chacham, O; Dayan, D; Stephen, J; Weech, A; Damseh, N; Pri Chen, H; Edvardson, S; Mazaheri, S; Saada, A; Hershkovitz, E; Shaag, A; Huizing, M; Abu-Libdeh, B; Gahl, W A; Azem, A; Anikster, Y; Vilboux, T; Elpeleg, O; Malicdan, M C

Shahrour, M A; Staretz-Chacham, O; Dayan, D; Stephen, J; Weech, A; Damseh, N; Pri Chen, H; Edvardson, S; Mazaheri, S; Saada, A; Hershkovitz, E; Shaag, A; Huizing, M; Abu-Libdeh, B; Gahl, W A; Azem, A; Anikster, Y; Vilboux, T; Elpeleg, O; Malicdan, M C.

Afiliación

Shahrour MA; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
Staretz-Chacham O; Metabolic Disease Unit, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel.
Dayan D; Department of Biochemistry & Molecular Biology, Tel Aviv University, Tel Aviv, Israel.
Stephen J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Weech A; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Damseh N; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
Pri Chen H; Department of Biochemistry & Molecular Biology, Tel Aviv University, Tel Aviv, Israel.
Edvardson S; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Mazaheri S; Graduate Partnerships Program, Tel Aviv University, Tel Aviv, Israel, and the National Institutes of Health, Bethesda, MD, USA.
Saada A; Pediatric Neurology Unit, Hadassah, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.
Hershkovitz E; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center Jerusalem, Jerusalem, Israel.
Shaag A; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Huizing M; Metabolic Disease Unit, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel.
Abu-Libdeh B; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Azem A; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
Anikster Y; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Vilboux T; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Elpeleg O; Department of Biochemistry & Molecular Biology, Tel Aviv University, Tel Aviv, Israel.
Malicdan MC; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Clin Genet ; 91(5): 690-696, 2017 May.

Article en En | MEDLINE | ID: mdl-27573165

Asunto(s)

Adenosina Trifosfatasas/deficiencia; Epilepsia/genética; Proteínas de la Membrana/deficiencia; Proteínas de Transporte de Membrana/genética; Errores Innatos del Metabolismo/genética; Encefalomiopatías Mitocondriales/genética; Adenosina Trifosfatasas/genética; Proteínas Portadoras/genética; Niño; Preescolar; Femenino; Humanos; Lactante; Masculino; Proteínas de la Membrana/genética; Proteínas del Complejo de Importación de Proteínas Precursoras Mitocondriales; ATPasas de Translocación de Protón Mitocondriales; Mutación; Polimorfismo de Nucleótido Simple; Embarazo

Palabras clave

3-methylglutaconic aciduria; TIMM50; epileptic encephalopathy; exome analysis; mitochondria

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Encefalomiopatías Mitocondriales / Adenosina Trifosfatasas / Epilepsia / Proteínas de la Membrana / Errores Innatos del Metabolismo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Israel

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