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

Neurogenetics

Volumn 14, Issue 2, 2013, Pages 153-160

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

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d HOSPITAL DE SÃO JOÃO   (Portugal)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Cerebellar ataxia; Complex III; Olivo ponto cerebellar atrophy; Psychiatric manifestations; TTC19

Indexed keywords

PEPTIDE DERIVATIVE; REACTIVE OXYGEN METABOLITE; TETRATRICOPEPTIDE 19; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX III DEFICIENCY; CONTROLLED STUDY; DISEASE SEVERITY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MALE; MENTAL DISEASE; OLIVOPONTOCEREBELLAR ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PSYCHOSIS; SIBLING; SKIN FIBROBLAST;

CELLS, CULTURED; FEMALE; FIBROBLASTS; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84877726828     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0361-1     Document Type: Article

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