TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Nature Genetics

Volumn 40, Issue 11, 2008, Pages 1288-1290

  Čížková, Alena ^a,b   Stránecký, Viktor ^a   Mayr, Johannes A ^c   Tesařová, Markéta ^d   Havlíčková, Vendula ^b   Paul, Jan ^b   Ivánek, Robert ^a   Kuss, Andreas W ^e   Hansíková, Hana ^d   Kaplanová, Vilma ^b   Vrbacký, Marek ^b   Hartmannová, Hana ^a   Nosková, Lenka ^a   Honzík, Tomáš ^d   Drahota, Zdeněk ^b   Magner, Martin ^d   Hejzlarová, Kateřina ^b   Sperl, Wolfgang ^c   Zeman, Jiří ^d   Houštěk, Josef ^b   Kmoch, Stanislav ^a   more..

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

^b INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d CHARLES UNIVERSITY   (Czech Republic)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ARTICLE; BIOGENESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENOTYPE; HUMAN; MITOCHONDRIAL ENCEPHALOCARDIOMYOPATHY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; TMEM70 GENE;

CARDIOMYOPATHIES; CELL LINE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION; TRANSFECTION;

EUKARYOTA;

EID: 55049120285     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.246     Document Type: Article

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