Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency.

Hashemi, Seyyed S; Zare-Abdollahi, Davood; Bakhshandeh, Mohammad K; Vafaee, Amirreza; Abolhasani, Sona; Inanloo Rahatloo, Kolsoum; DanaeeFard, Fardad; Farboodi, Niloofar; Rohani, Mohammad; Alavi, Afagh

Clinical spectrum in multiple families with primary COQ₁₀ deficiency.

Hashemi, Seyyed S; Zare-Abdollahi, Davood; Bakhshandeh, Mohammad K; Vafaee, Amirreza; Abolhasani, Sona; Inanloo Rahatloo, Kolsoum; DanaeeFard, Fardad; Farboodi, Niloofar; Rohani, Mohammad; Alavi, Afagh.

Hashemi SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Zare-Abdollahi D; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Bakhshandeh MK; Department of Pediatrics, Faculty of Medicine, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Vafaee A; Department of Orthopedics, Tehran University of Medical Sciences, Tehran, Iran.
Abolhasani S; Department of Neurology, Tabriz University of Medical Sciences, Tabriz, Iran.
Inanloo Rahatloo K; School of Biology, College of Science, University of Tehran, Tehran, Iran.
DanaeeFard F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Farboodi N; UCLA School of Public Health, Los Angeles, California, USA.
Rohani M; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Am J Med Genet A ; 185(2): 440-452, 2021 02.

Article en En | MEDLINE | ID: mdl-33215859

Asunto(s)

Transferasas Alquil y Aril/genética; Ataxia/genética; Enfermedades Mitocondriales/genética; Proteínas Mitocondriales/genética; Oxigenasas de Función Mixta/genética; Debilidad Muscular/genética; Ubiquinona/análogos & derivados; Ubiquinona/deficiencia; Ataxia/epidemiología; Ataxia/patología; Canadá/epidemiología; Niño; Femenino; Predisposición Genética a la Enfermedad; Humanos; Recién Nacido; Irán/epidemiología; Masculino; Mitocondrias/genética; Mitocondrias/patología; Enfermedades Mitocondriales/epidemiología; Enfermedades Mitocondriales/patología; Debilidad Muscular/epidemiología; Debilidad Muscular/patología; Mutación/genética; Ubiquinona/genética; Secuenciación del Exoma

Palabras clave

COQ2, COQ4 and COQ7 genes; hereditary spastic paraplegia (HSP); mitochondrial disease; primary COQ10 deficiencies; whole-exome sequencing (WES)

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Ubiquinona / Debilidad Muscular / Transferasas Alquil y Aril / Enfermedades Mitocondriales / Proteínas Mitocondriales / Oxigenasas de Función Mixta Tipo de estudio: Prognostic_studies / Screening_studies Límite: Child / Female / Humans / Male / Newborn País como asunto: America do norte / Asia Idioma: En Año: 2021 Tipo del documento: Article

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