Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Neuromuscular Disorders

Volumn 16, Issue 12, 2006, Pages 821-829

  Sperl, W ^a   Jesina P ^b   Zeman, J ^c   Mayr, J A ^a   DeMeirleir, L ^d   VanCoster, R ^e   Pickova A ^b   Hansikova H ^c   Houst'kova H ^c   Krejcik Z ^b   Koch, J ^a   Smet, J ^e   Muss, W ^a   Holme, E ^f   Houstek J ^b  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b Centre for Applied Genomics   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

^d Free University of Brussels ^*  (Belgium)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

3 Methyl glutaconic aciduria; ATP synthase; Hypertrophic cardiomyopathy; Lactic acidosis; Mitochondria; Newborn

Indexed keywords

3 METHYLGLUTACONIC ACID; ADENOSINE TRIPHOSPHATE; AUROVERTIN; MITOCHONDRIAL DNA; OLIGOMYCIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ACIDURIA; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHILD DEATH; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROPHORESIS; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYDROLYSIS; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LIVER; MALE; MENTAL DEFICIENCY; MITOCHONDRIAL DNA DISORDER; MOLECULAR GENETICS; MUSCLE; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SURVIVAL; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; AGE OF ONSET; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; FACE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEPATOMEGALY; HUMANS; INFANT; INFANT, NEWBORN; LACTIC ACID; MALE; MICROCEPHALY; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; SYNDROME;

EID: 33845198305     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.08.008     Document Type: Article

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