Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 840-844

  Alfadhel, Majid ^a   Lillquist, Yolanda P ^a   Waters, Paula J ^a   Sinclair, Graham ^a   Struys, Eduard ^a   Mcfadden, Deborah ^a   Hendson, Glenda ^a   Hyams, Lauren ^b   Shoffner, John ^b   Vallance, Hilary D ^a  

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^b Department of Medical Neurogenetics ^*  (United States)

Author keywords

Cardiomyopathy; Complex IV deficiency; COX15; Cytochrome c oxidase deficiency; Encephalopathy; Mitochondrial disorders; Nuclear gene defect

Indexed keywords

ACYLCARNITINE; ALANINE; CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE 15; LACTIC ACID; PROLINE; UNCLASSIFIED DRUG;

ACIDURIA; AMINO ACID BLOOD LEVEL; ARTICLE; AUTOPSY; BRAIN DISEASE; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DEPRESSION; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HEART HYPERTROPHY; HEART MUSCLE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; KETONURIA; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; LACTIC ACIDOSIS; LACTIC ACIDURIA; METABOLIC ACIDOSIS; MICROCEPHALY; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; RESPIRATION DEPRESSION; RESPIRATORY DISTRESS; SKELETAL MUSCLE; THORAX RADIOGRAPHY;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HEART DISEASES; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUTATION; MYOCARDIUM;

EID: 79953324327     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33881     Document Type: Article

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