Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Nogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luísa; Taipa, Ricardo; Torraco, Alessandra; Meschini, Maria Chiara; Verrigni, Daniela; Nesti, Claudia; Rizza, Teresa; Teixeira, João; Carrozzo, Rosalba; Pires, Manuel Melo; Vilarinho, Laura; Santorelli, Filippo M

Nogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luísa; Taipa, Ricardo; Torraco, Alessandra; Meschini, Maria Chiara; Verrigni, Daniela; Nesti, Claudia; Rizza, Teresa; Teixeira, João; Carrozzo, Rosalba; Pires, Manuel Melo; Vilarinho, Laura; Santorelli, Filippo M.

Affiliation

Nogueira C; Department of Genetics, National Institute of Health, INSA, Porto, Portugal.

Neurogenetics ; 14(2): 153-60, 2013 May.

Article in En | MEDLINE | ID: mdl-23532514

Subject(s)

Genetic Predisposition to Disease/genetics; Membrane Proteins/genetics; Mitochondria/genetics; Mitochondrial Encephalomyopathies/genetics; Mitochondrial Proteins/genetics; Mutation/genetics; Cells, Cultured; Female; Fibroblasts/metabolism; Genetic Heterogeneity; Genetic Testing/methods; Humans; Male; Middle Aged; Mitochondrial Proteins/metabolism; Pedigree; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Mitochondrial Encephalomyopathies / Genetic Predisposition to Disease / Mitochondrial Proteins / Membrane Proteins / Mitochondria / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2013 Type: Article Affiliation country: Portugal

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