Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Archives of Disease in Childhood

Volumn 95, Issue 4, 2010, Pages 296-301

  Honzík, Tomáš ^a   Tesařová, Markéta ^a   Mayr, Johannes A ^b   Hansíková, Hana ^a   Ješina, Pavel ^a   Bodamer, Olaf ^b   Koch, Johannes ^b   Magner, Martin ^a   Freisinger, Peter ^c   Huemer, Martina ^d   Kostková, Olga ^a   Van Coster, Rudy ^e   Kmoch, Stanislav ^f   Houštêk, Josef ^g   Sperl, Wolfgang ^b   Zeman, Jiří ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d Landeskrankenhaus Bregenz ^*  (Austria)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^g INSTITUTE OF PHYSIOLOGY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; LACTIC ACID; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ACUTE GASTROENTERITIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CRITICAL ILLNESS; CRYPTORCHISM; DISEASE SEVERITY; EUROPE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERAMMONEMIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOSPADIAS; ITALY; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RETROSPECTIVE STUDY; SURVIVAL; TMEM70 GENE;

AGE OF ONSET; CRYPTORCHIDISM; FEMALE; HUMANS; HYPERAMMONEMIA; HYPOSPADIAS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 77950323171     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2009.168096     Document Type: Article

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