Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

Journal of Medical Genetics

Volumn 48, Issue 10, 2011, Pages 691-697

  Fassone, Elisa ^a,b   Taanman, Jan Willem ^c   Hargreaves, Iain P ^d   Sebire, Neil J ^e   Cleary, Maureen A ^e   Burch, Michael ^e   Rahman, Shamima ^a,d,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ADRENALIN; ANTIBIOTIC AGENT; BICARBONATE; CARNITINE; DOPAMINE; HEMOSIDERIN; HYDROXYBUTYRYLCARNITINE; PROTEIN NDUFAF1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ALLELE; ANTIBIOTIC THERAPY; ARTICLE; ARTIFICIAL VENTILATION; BIOACCUMULATION; CARDIOGENIC SHOCK; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONSERVATIVE TREATMENT; CONTINUOUS HEMODIAFILTRATION; CORONARY CARE UNIT; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EMERGENCY WARD; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; EXTRACORPOREAL OXYGENATION; FIBROBLAST; GENE SEQUENCE; HEART VENTRICLE HYPERTROPHY; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFANTILE HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; LEIGH DISEASE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MITOCHONDRIAL COMPLEX 1 DEFICIENCY; NOSE FEEDING; NUCLEOTIDE SEQUENCE; PERICARDIAL EFFUSION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RESPIRATORY SYNCYTIAL VIRUS INFECTION; SEQUENCE ANALYSIS; VIRAL BRONCHIOLITIS; WESTERN BLOTTING;

AMINO ACID SEQUENCE; BLOTTING, WESTERN; CARDIOMYOPATHY, HYPERTROPHIC; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FATAL OUTCOME; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NADH DEHYDROGENASE; SEQUENCE ALIGNMENT;

EID: 80955136595     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100340     Document Type: Article

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