Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 159-164

  Abdulhag, Ulla Najwa ^a   Soiferman, Devorah ^a   Schueler Furman, Ora ^b   Miller, Chaya ^a   Shaag, Avraham ^a   Elpeleg, Orly ^a   Edvardson, Simon ^a   Saada, Ann ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE; AMMONIA; ASCORBIC ACID; CITRATE SYNTHASE; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE 6B1; KETONE; LACTIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RESVERATROL; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE; UNCLASSIFIED DRUG; COX6B1 PROTEIN, HUMAN;

ARTICLE; CARDIAC PATIENT; CARDIOMYOPATHY; CASE REPORT; CEREBRAL BLINDNESS; CHEST INFECTION; COMPUTER MODEL; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DRUG WITHDRAWAL; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; FEEDING DIFFICULTY; FIBROBLAST; FOLLOW UP; GENETIC ANALYSIS; HEART LEFT VENTRICLE HYPERTROPHY; HOMOGENATE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; HYPOXEMIA; INFANT; LUNG EDEMA; LYMPHOCYTE; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE MITOCHONDRION; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RECURRENT ASPIRATION; SYSTOLIC HEART MURMUR; VITAMIN SUPPLEMENTATION; WESTERN BLOTTING; WILD TYPE; CARDIOMYOPATHIES; GENETICS; METABOLISM; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; NEWBORN; SKELETAL MUSCLE; SYNDROME;

CARDIOMYOPATHIES; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; SYNDROME;

EID: 84921405736     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.85     Document Type: Article

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