TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomy...
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
About this item
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Author / Creator
Čížková, Alena , Stránecký, Viktor , Mayr, Johannes A , Tesařová, Markéta , Havlíčková, Vendula , Paul, Jan , Ivánek, Robert , Kuss, Andreas W , Hansíková, Hana , Kaplanová, Vilma , Vrbacký, Marek , Hartmannová, Hana , Nosková, Lenka , Honzík, Tomáš , Drahota, Zdeněk , Magner, Martin , Hejzlarová, Kateřina , Sperl, Wolfgang , Zeman, Jiří , Houštěk, Josef and Kmoch, Stanislav
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Stanislav Kmoch and colleagues identify mutations in
TMEM70
in individuals with isolated mitochondrial ATP synthase deficiency, and demonstrate that complementation of cell lines of affected individuals with wild-type
TMEM70
restores ATP synthase function.
We carried out whole-genome homozygosity mapping, gene expression analysis and...
Alternative Titles
Full title
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Authors, Artists and Contributors
Author / Creator
Stránecký, Viktor
Mayr, Johannes A
Tesařová, Markéta
Havlíčková, Vendula
Paul, Jan
Ivánek, Robert
Kuss, Andreas W
Hansíková, Hana
Kaplanová, Vilma
Vrbacký, Marek
Hartmannová, Hana
Nosková, Lenka
Honzík, Tomáš
Drahota, Zdeněk
Magner, Martin
Hejzlarová, Kateřina
Sperl, Wolfgang
Zeman, Jiří
Houštěk, Josef
Kmoch, Stanislav
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69722948
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69722948
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.246
