TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Cízková; Viktor Stránecký; Johannes A. Mayr; Markéta Tesarová; Vendula Havlícková; Jan Paul; Robert Ivánek; Andreas W Kuss; Hana Hansíková; Vilma Kaplanová; Marek Vrbacký; Hana Hartmannová; Lenka Nosková; Tomás Honzík; Zdenek Drahota; Martin Magner; Katerina Hejzlarová; Wolfgang Sperl; Jirí Zeman; Josef Houstek; Stanislav Kmoch

doi:10.1038/ng.246

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Cízková, Viktor Stránecký, Johannes A. Mayr (Co-author), Markéta Tesarová, Vendula Havlícková, Jan Paul, Robert Ivánek, Andreas W Kuss, Hana Hansíková, Vilma Kaplanová, Marek Vrbacký, Hana Hartmannová, Lenka Nosková, Tomás Honzík, Zdenek Drahota, Martin Magner, Katerina Hejzlarová, Wolfgang Sperl (Co-author), Jirí Zeman, Josef HoustekStanislav Kmoch

Department of Pediatrics

Research output: Contribution to journal › Short comment / notes › peer-review

154 Citations (Web of Science)

Original language	English
Pages (from-to)	1288-1290
Journal	NATURE GENETICS
Volume	40
Issue number	11
DOIs	https://doi.org/10.1038/ng.246
Publication status	Published - 2008

Keywords

ASSEMBLY FACTORS
DEFECTS
COMPLEX
ORIGIN

Access to Document

10.1038/ng.246

Cite this

Cízková, A., Stránecký, V., Mayr, J. A., Tesarová, M., Havlícková, V., Paul, J., Ivánek, R., Kuss, A. W., Hansíková, H., Kaplanová, V., Vrbacký, M., Hartmannová, H., Nosková, L., Honzík, T., Drahota, Z., Magner, M., Hejzlarová, K., Sperl, W., Zeman, J., ... Kmoch, S. (2008). TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. NATURE GENETICS , 40(11), 1288-1290. https://doi.org/10.1038/ng.246

Cízková, Alena ; Stránecký, Viktor ; Mayr, Johannes A. et al. / TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. In: NATURE GENETICS 2008 ; Vol. 40, No. 11. pp. 1288-1290.

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author = "Alena C{\'i}zkov{\'a} and Viktor Str{\'a}neck{\'y} and Mayr, {Johannes A.} and Mark{\'e}ta Tesarov{\'a} and Vendula Havl{\'i}ckov{\'a} and Jan Paul and Robert Iv{\'a}nek and Kuss, {Andreas W} and Hana Hans{\'i}kov{\'a} and Vilma Kaplanov{\'a} and Marek Vrback{\'y} and Hana Hartmannov{\'a} and Lenka Noskov{\'a} and Tom{\'a}s Honz{\'i}k and Zdenek Drahota and Martin Magner and Katerina Hejzlarov{\'a} and Wolfgang Sperl and Jir{\'i} Zeman and Josef Houstek and Stanislav Kmoch",

year = "2008",

doi = "10.1038/ng.246",

language = "English",

volume = "40",

pages = "1288--1290",

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Cízková, A, Stránecký, V, Mayr, JA, Tesarová, M, Havlícková, V, Paul, J, Ivánek, R, Kuss, AW, Hansíková, H, Kaplanová, V, Vrbacký, M, Hartmannová, H, Nosková, L, Honzík, T, Drahota, Z, Magner, M, Hejzlarová, K, Sperl, W, Zeman, J, Houstek, J & Kmoch, S 2008, 'TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy', NATURE GENETICS , vol. 40, no. 11, pp. 1288-1290. https://doi.org/10.1038/ng.246

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. / Cízková, Alena; Stránecký, Viktor; Mayr, Johannes A. (Co-author) et al.
In: NATURE GENETICS , Vol. 40, No. 11, 2008, p. 1288-1290.

Research output: Contribution to journal › Short comment / notes › peer-review

TY - JOUR

T1 - TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

AU - Cízková, Alena

AU - Stránecký, Viktor

AU - Mayr, Johannes A.

AU - Tesarová, Markéta

AU - Havlícková, Vendula

AU - Paul, Jan

AU - Ivánek, Robert

AU - Kuss, Andreas W

AU - Hansíková, Hana

AU - Kaplanová, Vilma

AU - Vrbacký, Marek

AU - Hartmannová, Hana

AU - Nosková, Lenka

AU - Honzík, Tomás

AU - Drahota, Zdenek

AU - Magner, Martin

AU - Hejzlarová, Katerina

AU - Sperl, Wolfgang

AU - Zeman, Jirí

AU - Houstek, Josef

AU - Kmoch, Stanislav

PY - 2008

Y1 - 2008

KW - ASSEMBLY FACTORS

KW - DEFECTS

KW - COMPLEX

KW - ORIGIN

U2 - 10.1038/ng.246

DO - 10.1038/ng.246

M3 - Short comment / notes

C2 - 18953340

SN - 1061-4036

VL - 40

SP - 1288

EP - 1290

JO - NATURE GENETICS

JF - NATURE GENETICS

IS - 11

ER -

Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. NATURE GENETICS . 2008;40(11):1288-1290. doi: 10.1038/ng.246