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Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
González-Quintana, Adrián; Trujillo-Tiebas, María J; Fernández-Perrone, Ana L; Blázquez, Alberto; Lucia, Alejandro; Morán, María; Ugalde, Cristina; Arenas, Joaquín; Ayuso, Carmen; Martín, Miguel A.
Affiliation
  • González-Quintana A; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Trujillo-Tiebas MJ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Department of Genetics, IIS-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Fernández-Perrone AL; Pediatric Neurology Department, Hospital Quirónsalud, Madrid, Spain.
  • Blázquez A; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.
  • Lucia A; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain; Center for Biomedical Research Network on Frailty and Healthy Aging (CIBERFES), Madrid, Spain.
  • Morán M; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.
  • Ugalde C; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.
  • Arenas J; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.
  • Ayuso C; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Department of Genetics, IIS-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Martín MA; Mitochondrial Diseases Laboratory, Hospital Universitario '12 de Octubre', Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain. Electronic address: mamcasanueva.imas12@h12
Mol Genet Metab ; 131(3): 341-348, 2020 11.
Article in En | MEDLINE | ID: mdl-33093004
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Uniparental Disomy / Electron Transport Complex I Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2020 Document type: Article Affiliation country: España Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Uniparental Disomy / Electron Transport Complex I Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2020 Document type: Article Affiliation country: España Country of publication: Estados Unidos