COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.

Gloria Brea-Calvo; Tobias B Haack; Daniela Karall; Akira Ohtake; Federica Invernizzi; Rosalba Carrozzo; Laura Kremer; Sabrina Dusi; Christine Fauth; Sabine Scholl-Bürgi; Elisabeth Graf; Uwe Ahting; Nicoletta Resta; Nicola Laforgia; Daniela Verrigni; Yasushi Okazaki; Masakazu Kohda; Diego Martinelli; Peter Freisinger; Tim M Strom; Thomas Meitinger; Costanza Lamperti; Atilano Lacson; Placido Navas; Johannes A. Mayr; Enrico Bertini; Kei Murayama; Massimo Zeviani; Holger Prokisch; Daniele Ghezzi

doi:10.1016/j.ajhg.2014.12.023

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.

Gloria Brea-Calvo, Tobias B Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M StromThomas Meitinger, Costanza Lamperti, Atilano Lacson, Placido Navas, Johannes A. Mayr (Co-author), Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

Department of Pediatrics

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

85 Citations (Web of Science)

Original language	English
Pages (from-to)	309-317
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	96
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2014.12.023
Publication status	Published - 2015

Keywords

COENZYME Q(10) DEFICIENCY
NEPHROTIC SYNDROME
DILATED CARDIOMYOPATHY
CEREBELLAR-ATAXIA
BIOSYNTHESIS
CHAIN
COMPLEX
IDENTIFICATION
UBIQUINONE
DIAGNOSIS

Access to Document

10.1016/j.ajhg.2014.12.023

Cite this

Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Bürgi, S., Graf, E., Ahting, U., Resta, N., Laforgia, N., Verrigni, D., Okazaki, Y., Kohda, M., Martinelli, D., Freisinger, P., ... Ghezzi, D. (2015). COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency. AMERICAN JOURNAL OF HUMAN GENETICS , 96(2), 309-317. https://doi.org/10.1016/j.ajhg.2014.12.023

Brea-Calvo, Gloria ; Haack, Tobias B ; Karall, Daniela et al. / COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency. In: AMERICAN JOURNAL OF HUMAN GENETICS 2015 ; Vol. 96, No. 2. pp. 309-317.

@article{fcacaceef34c4a04973dfcd0f8746ff3,

title = "COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.",

keywords = "COENZYME Q(10) DEFICIENCY, NEPHROTIC SYNDROME, DILATED CARDIOMYOPATHY, CEREBELLAR-ATAXIA, BIOSYNTHESIS, CHAIN, COMPLEX, IDENTIFICATION, UBIQUINONE, DIAGNOSIS",

author = "Gloria Brea-Calvo and Haack, {Tobias B} and Daniela Karall and Akira Ohtake and Federica Invernizzi and Rosalba Carrozzo and Laura Kremer and Sabrina Dusi and Christine Fauth and Sabine Scholl-B{\"u}rgi and Elisabeth Graf and Uwe Ahting and Nicoletta Resta and Nicola Laforgia and Daniela Verrigni and Yasushi Okazaki and Masakazu Kohda and Diego Martinelli and Peter Freisinger and Strom, {Tim M} and Thomas Meitinger and Costanza Lamperti and Atilano Lacson and Placido Navas and Mayr, {Johannes A.} and Enrico Bertini and Kei Murayama and Massimo Zeviani and Holger Prokisch and Daniele Ghezzi",

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

year = "2015",

doi = "10.1016/j.ajhg.2014.12.023",

language = "English",

volume = "96",

pages = "309--317",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

number = "2",

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Brea-Calvo, G, Haack, TB, Karall, D, Ohtake, A, Invernizzi, F, Carrozzo, R, Kremer, L, Dusi, S, Fauth, C, Scholl-Bürgi, S, Graf, E, Ahting, U, Resta, N, Laforgia, N, Verrigni, D, Okazaki, Y, Kohda, M, Martinelli, D, Freisinger, P, Strom, TM, Meitinger, T, Lamperti, C, Lacson, A, Navas, P, Mayr, JA, Bertini, E, Murayama, K, Zeviani, M, Prokisch, H & Ghezzi, D 2015, 'COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 96, no. 2, pp. 309-317. https://doi.org/10.1016/j.ajhg.2014.12.023

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency. / Brea-Calvo, Gloria; Haack, Tobias B; Karall, Daniela et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 96, No. 2, 2015, p. 309-317.

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

TY - JOUR

T1 - COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.

AU - Brea-Calvo, Gloria

AU - Haack, Tobias B

AU - Karall, Daniela

AU - Ohtake, Akira

AU - Invernizzi, Federica

AU - Carrozzo, Rosalba

AU - Kremer, Laura

AU - Dusi, Sabrina

AU - Fauth, Christine

AU - Scholl-Bürgi, Sabine

AU - Graf, Elisabeth

AU - Ahting, Uwe

AU - Resta, Nicoletta

AU - Laforgia, Nicola

AU - Verrigni, Daniela

AU - Okazaki, Yasushi

AU - Kohda, Masakazu

AU - Martinelli, Diego

AU - Freisinger, Peter

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Lamperti, Costanza

AU - Lacson, Atilano

AU - Navas, Placido

AU - Mayr, Johannes A.

AU - Bertini, Enrico

AU - Murayama, Kei

AU - Zeviani, Massimo

AU - Prokisch, Holger

AU - Ghezzi, Daniele

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

PY - 2015

Y1 - 2015

KW - COENZYME Q(10) DEFICIENCY

KW - NEPHROTIC SYNDROME

KW - DILATED CARDIOMYOPATHY

KW - CEREBELLAR-ATAXIA

KW - BIOSYNTHESIS

KW - CHAIN

KW - COMPLEX

KW - IDENTIFICATION

KW - UBIQUINONE

KW - DIAGNOSIS

U2 - 10.1016/j.ajhg.2014.12.023

DO - 10.1016/j.ajhg.2014.12.023

M3 - Original Article

C2 - 25658047

SN - 0002-9297

VL - 96

SP - 309

EP - 317

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R et al. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency. AMERICAN JOURNAL OF HUMAN GENETICS . 2015;96(2):309-317. doi: 10.1016/j.ajhg.2014.12.023