Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 67-79

  Freisinger, P ^a   Horvath, R ^b   Macmillan, C ^c   Peters, J ^a   Jaksch, Michaela ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b Metabolic Disease Center   (Germany)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CARNITINE; COPPER; CREATINE; CYTOCHROME C OXIDASE; FUROSEMIDE; HISTIDINE; OROTIC ACID; PROPRANOLOL; PROTEIN SCO2; RIBOFLAVIN; SPIRONOLACTONE; UBIDECARENONE; UNCLASSIFIED DRUG; VERAPAMIL;

ARTICLE; ARTIFICIAL VENTILATION; BRAIN ATROPHY; BRAIN INJURY; CASE REPORT; CYTOCHROME C OXIDASE DEFICIENCY; DEATH; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; ELECTROCARDIOGRAPHY; FEMALE; GASTROSTOMY; GENE MUTATION; HEART FAILURE; HEART FUNCTION; HEART MUSCLE ISCHEMIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MITOCHONDRION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PNEUMONIA; PRESCHOOL CHILD; PROTEIN DEFICIENCY; PTOSIS; RESPIRATORY FAILURE; SIDE EFFECT; SINUS TACHYCARDIA; TREATMENT OUTCOME;

CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; HISTIDINE; HUMANS; INJECTIONS, SUBCUTANEOUS; LACTIC ACID; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; ORGANOMETALLIC COMPOUNDS; PROTEINS; REMISSION INDUCTION;

EID: 1842433755     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016614.47380.2f     Document Type: Article

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