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A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Lebon, Sophie; Minai, Limor; Chretien, Dominique; Corcos, Johanna; Serre, Valérie; Kadhom, Noman; Steffann, Julie; Pauchard, Jean-Yves; Munnich, Arnold; Bonnefont, Jean-Paul; Rötig, Agnès.
Affiliation
  • Lebon S; Service de Génétique and INSERM U781, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
Mol Genet Metab ; 92(1-2): 104-8, 2007.
Article in En | MEDLINE | ID: mdl-17604671
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Exons / Electron Transport Complex I / Mitochondria / Mutation / NADH Dehydrogenase Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2007 Document type: Article Affiliation country: France Country of publication: United States
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Exons / Electron Transport Complex I / Mitochondria / Mutation / NADH Dehydrogenase Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2007 Document type: Article Affiliation country: France Country of publication: United States