Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.

Johnstone, Thomas; Wang, Jennifer; Ross, Daron; Balanda, Nicholas; Huang, Yan; Godfrey, Rena; Groden, Catherine; Barton, Brandon R; Gahl, William; Toro, Camilo; Malicdan, May Christine V

Johnstone, Thomas; Wang, Jennifer; Ross, Daron; Balanda, Nicholas; Huang, Yan; Godfrey, Rena; Groden, Catherine; Barton, Brandon R; Gahl, William; Toro, Camilo; Malicdan, May Christine V.

Afiliación

Johnstone T; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; United States Naval Academy, Annapolis, MD, USA.
Wang J; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Ross D; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Balanda N; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Huang Y; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Godfrey R; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Groden C; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Barton BR; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Gahl W; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Toro C; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Malicdan MCV; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: malicdanm@mail.nih.gov.

Mol Genet Metab ; 131(1-2): 98-106, 2020.

Article en En | MEDLINE | ID: mdl-33097395

Asunto(s)

Complejo I de Transporte de Electrón/genética; Enfermedad de Leigh/genética; Mitocondrias/genética; Proteínas Mitocondriales/genética; NADH Deshidrogenasa/genética; Adolescente; Adulto; Alelos; Niño; Femenino; Predisposición Genética a la Enfermedad; Humanos; Enfermedad de Leigh/patología; Masculino; Mutación/genética; Linaje; Empalme del ARN/genética; Adulto Joven

Palabras clave

Leigh syndrome; Mitochondrial/rare disease; NDUFAF6; NDUFS3; Splicing variants

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Mitocondrias / NADH Deshidrogenasa Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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