Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

APMIS

Volumn 116, Issue 1, 2008, Pages 41-49

  Vesela, Katerina ^a   Hulkova, Helena ^a   Hansikova, Hana ^a   Zeman, Jiri ^a   Elleder, Milan ^a,b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Cardiomyopathy; COX deficiency; Mitochondrial abnormalities; Myopathy; Neuropathy; Retinopathy; SCO2 mutations

Indexed keywords

ARTICLE; BRAIN DISEASE; CARDIOMYOPATHY; CYTOCHROME C OXIDASE DEFICIENCY; FEMALE; GENE; GENE MUTATION; HEART MUSCLE; HEART VENTRICLE HYPERTROPHY; HEART WEIGHT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIFESPAN; MALE; MITOCHONDRION; NERVE DEGENERATION; NERVOUS SYSTEM; NONSENSE MUTATION; PHENOTYPE; POLIOENCEPHALITIS; PRIORITY JOURNAL; RETINA NERVE CELL; SCO2 GENE; SKELETAL MUSCLE; SPINAL CORD MOTONEURON; STRUCTURE ANALYSIS;

CARDIOMEGALY; CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOCARDIUM; NEURONS; SIBLINGS;

EID: 38849196362     PISSN: 09034641     EISSN: 16000463     Source Type: Journal    
DOI: 10.1111/j.1600-0463.2008.00772.x     Document Type: Article

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