ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.

Tobias B Haack; Robert Kopajtich; Peter Freisinger; Thomas Wieland; Joanna Rorbach; Thomas J Nicholls; Enrico Baruffini; Anett Walther; Katharina Danhauser; Franz Zimmermann; Ralf A Husain; Jessica Schum; Helen Mundy; Ileana Ferrero; Tim M Strom; Thomas Meitinger; Robert W Taylor; Michal Minczuk; Johannes A. Mayr; Holger Prokisch

doi:10.1016/j.ajhg.2013.06.006

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.

Tobias B Haack
, Robert Kopajtich
, Peter Freisinger
, Thomas Wieland
, Joanna Rorbach
, Thomas J Nicholls
, Enrico Baruffini
, Anett Walther
, Katharina Danhauser
, Franz Zimmermann (Co-author)
, Ralf A Husain
, Jessica Schum
, Helen Mundy
, Ileana Ferrero
, Tim M Strom
, Thomas Meitinger
, Robert W Taylor
, Michal Minczuk
, Johannes A. Mayr (Co-author)
, Holger Prokisch

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

113 Citations (Web of Science)

Original language	English
Pages (from-to)	211-223
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	93
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2013.06.006
Publication status	Published - 2013

Keywords

COMPLEX I DEFICIENCY
SUSCEPTIBILITY GENE ELAC2
MISSENSE MUTATIONS
LACTIC-ACIDOSIS
PRODUCT
DISEASE
DNA
TRANSLATION
METABOLISM
VARIANTS

Access to Document

10.1016/j.ajhg.2013.06.006

Cite this

Haack, T. B., Kopajtich, R., Freisinger, P., Wieland, T., Rorbach, J., Nicholls, T. J., Baruffini, E., Walther, A., Danhauser, K., Zimmermann, F., Husain, R. A., Schum, J., Mundy, H., Ferrero, I., Strom, T. M., Meitinger, T., Taylor, R. W., Minczuk, M., Mayr, J. A., & Prokisch, H. (2013). ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 93(2), 211-223. https://doi.org/10.1016/j.ajhg.2013.06.006

Haack, Tobias B ; Kopajtich, Robert ; Freisinger, Peter et al. / ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. In: AMERICAN JOURNAL OF HUMAN GENETICS 2013 ; Vol. 93, No. 2. pp. 211-223.

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title = "ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.",

keywords = "COMPLEX I DEFICIENCY, SUSCEPTIBILITY GENE ELAC2, MISSENSE MUTATIONS, LACTIC-ACIDOSIS, PRODUCT, DISEASE, DNA, TRANSLATION, METABOLISM, VARIANTS",

author = "Haack, \{Tobias B\} and Robert Kopajtich and Peter Freisinger and Thomas Wieland and Joanna Rorbach and Nicholls, \{Thomas J\} and Enrico Baruffini and Anett Walther and Katharina Danhauser and Franz Zimmermann and Husain, \{Ralf A\} and Jessica Schum and Helen Mundy and Ileana Ferrero and Strom, \{Tim M\} and Thomas Meitinger and Taylor, \{Robert W\} and Michal Minczuk and Mayr, \{Johannes A.\} and Holger Prokisch",

note = "6 Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria",

year = "2013",

doi = "10.1016/j.ajhg.2013.06.006",

language = "English",

volume = "93",

pages = "211--223",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

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Haack, TB, Kopajtich, R, Freisinger, P, Wieland, T, Rorbach, J, Nicholls, TJ, Baruffini, E, Walther, A, Danhauser, K, Zimmermann, F, Husain, RA, Schum, J, Mundy, H, Ferrero, I, Strom, TM, Meitinger, T, Taylor, RW, Minczuk, M, Mayr, JA & Prokisch, H 2013, 'ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 93, no. 2, pp. 211-223. https://doi.org/10.1016/j.ajhg.2013.06.006

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. / Haack, Tobias B; Kopajtich, Robert; Freisinger, Peter et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 93, No. 2, 2013, p. 211-223.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.

AU - Haack, Tobias B

AU - Kopajtich, Robert

AU - Freisinger, Peter

AU - Wieland, Thomas

AU - Rorbach, Joanna

AU - Nicholls, Thomas J

AU - Baruffini, Enrico

AU - Walther, Anett

AU - Danhauser, Katharina

AU - Zimmermann, Franz

AU - Husain, Ralf A

AU - Schum, Jessica

AU - Mundy, Helen

AU - Ferrero, Ileana

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Taylor, Robert W

AU - Minczuk, Michal

AU - Mayr, Johannes A.

AU - Prokisch, Holger

N1 - 6 Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria

PY - 2013

Y1 - 2013

KW - COMPLEX I DEFICIENCY

KW - SUSCEPTIBILITY GENE ELAC2

KW - MISSENSE MUTATIONS

KW - LACTIC-ACIDOSIS

KW - PRODUCT

KW - DISEASE

KW - DNA

KW - TRANSLATION

KW - METABOLISM

KW - VARIANTS

U2 - 10.1016/j.ajhg.2013.06.006

DO - 10.1016/j.ajhg.2013.06.006

M3 - Original Article

C2 - 23849775

SN - 0002-9297

VL - 93

SP - 211

EP - 223

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ et al. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. AMERICAN JOURNAL OF HUMAN GENETICS . 2013;93(2):211-223. doi: 10.1016/j.ajhg.2013.06.006