Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata, Adel; Edery, Michael; Habib, Clair; Genizi, Jacob; Mahroum, Mohammad; Khalaily, Lama; Assaf, Nurit; Segal, Idan; Abed El Rahim, Hoda; Shapira, Hana; Urian, Danielle; Tzur, Shay; Douiev, Liza; Saada, Ann

Shalata, Adel; Edery, Michael; Habib, Clair; Genizi, Jacob; Mahroum, Mohammad; Khalaily, Lama; Assaf, Nurit; Segal, Idan; Abed El Rahim, Hoda; Shapira, Hana; Urian, Danielle; Tzur, Shay; Douiev, Liza; Saada, Ann.

Afiliación

Shalata A; Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, P.O.B. 4940, 31048, Haifa, Israel. adel.shalata@b-zion.org.il.
Edery M; Clalit Health Care-Haifa and West Galilee District, Haifa, Israel. adel.shalata@b-zion.org.il.
Habib C; Ginatuna Association, Sakhnin, Israel. adel.shalata@b-zion.org.il.
Genizi J; Department of Genetic and Metabolic Diseases, Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, 9112001, Jerusalem, Israel.
Mahroum M; Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, P.O.B. 4940, 31048, Haifa, Israel.
Khalaily L; Department of Pediatrics, Bnai Zion Medical Center, Haifa, Israel.
Assaf N; Department of Pediatrics, Bnai Zion Medical Center, Haifa, Israel.
Segal I; Pediatric Neurology Unit, Bnai Zion Medical Center, Haifa, Israel.
Abed El Rahim H; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Shapira H; Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, P.O.B. 4940, 31048, Haifa, Israel.
Urian D; Ginatuna Association, Sakhnin, Israel.
Tzur S; Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, P.O.B. 4940, 31048, Haifa, Israel.
Douiev L; Department of Pediatrics, Bnai Zion Medical Center, Haifa, Israel.
Saada A; Pediatric Neurology Unit, Bnai Zion Medical Center, Haifa, Israel.

Neurochem Res ; 44(10): 2372-2384, 2019 Oct.

Article en En | MEDLINE | ID: mdl-30968303

Asunto(s)

Ataxia/genética; Fibroblastos/metabolismo; Mitocondrias/genética; Enfermedades Mitocondriales/genética; Proteínas Mitocondriales/genética; Debilidad Muscular/genética; Ubiquinona/análogos & derivados; Ubiquinona/deficiencia; Ataxia Cerebelosa/genética; Preescolar; Femenino; Humanos; Lactante; Masculino; Mutación/genética; Ubiquinona/genética

Palabras clave

ADCK3; Coenzyme Q; Mitochondrial disease; Q10 deficiency-4; SCAR9; Spinocerebellar ataxia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Enfermedades Mitocondriales / Proteínas Mitocondriales / Fibroblastos / Mitocondrias Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neurochem Res Año: 2019 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos

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