Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Mirjana Gusic; Gudrun Schottmann; René Feichtinger; Chen Du; Caroline Scholz; Matias Wagner; Johannes A. Mayr; Chae-Young Lee; Vicente A Yépez; Norbert Lorenz; Susanne Morales-Gonzalez; Daan M Panneman; Agnès Rötig; Richard J T Rodenburg; Saskia Wortmann; Holger Prokisch; Markus Schuelke

doi:10.1016/j.ajhg.2019.12.005

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Mirjana Gusic, Gudrun Schottmann, René Feichtinger (Co-author), Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr (Co-author), Chae-Young Lee, Vicente A Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M Panneman, Agnès Rötig, Richard J T Rodenburg, Saskia Wortmann (Co-author), Holger Prokisch, Markus Schuelke

Department of Pediatrics

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

33 Citations (Web of Science)

Original language	English
Pages (from-to)	102-111
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	106
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2019.12.005
Publication status	Published - 2020

Keywords

IRON-SULFUR PROTEIN
RESPIRATORY-CHAIN
CYTOCHROME-B
BC(1) COMPLEX
HOMOZYGOUS MUTATION
GENE
MANIFESTATIONS
ENCEPHALOPATHY
ARCHITECTURE
LYRM7/MZM1L

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10.1016/j.ajhg.2019.12.005

Cite this

Gusic, M., Schottmann, G., Feichtinger, R., Du, C., Scholz, C., Wagner, M., Mayr, J. A., Lee, C.-Y., Yépez, V. A., Lorenz, N., Morales-Gonzalez, S., Panneman, D. M., Rötig, A., Rodenburg, R. J. T., Wortmann, S., Prokisch, H., & Schuelke, M. (2020). Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. AMERICAN JOURNAL OF HUMAN GENETICS , 106(1), 102-111. https://doi.org/10.1016/j.ajhg.2019.12.005

Gusic, Mirjana ; Schottmann, Gudrun ; Feichtinger, René et al. / Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. In: AMERICAN JOURNAL OF HUMAN GENETICS 2020 ; Vol. 106, No. 1. pp. 102-111.

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title = "Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.",

keywords = "IRON-SULFUR PROTEIN, RESPIRATORY-CHAIN, CYTOCHROME-B, BC(1) COMPLEX, HOMOZYGOUS MUTATION, GENE, MANIFESTATIONS, ENCEPHALOPATHY, ARCHITECTURE, LYRM7/MZM1L",

author = "Mirjana Gusic and Gudrun Schottmann and Ren{\'e} Feichtinger and Chen Du and Caroline Scholz and Matias Wagner and Mayr, {Johannes A.} and Chae-Young Lee and Y{\'e}pez, {Vicente A} and Norbert Lorenz and Susanne Morales-Gonzalez and Panneman, {Daan M} and Agn{\`e}s R{\"o}tig and Rodenburg, {Richard J T} and Saskia Wortmann and Holger Prokisch and Markus Schuelke",

note = "Feichtinger; Mayr; Wortmann: University Children{\textquoteright}s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria",

year = "2020",

doi = "10.1016/j.ajhg.2019.12.005",

language = "English",

volume = "106",

pages = "102--111",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

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Gusic, M, Schottmann, G, Feichtinger, R, Du, C, Scholz, C, Wagner, M, Mayr, JA, Lee, C-Y, Yépez, VA, Lorenz, N, Morales-Gonzalez, S, Panneman, DM, Rötig, A, Rodenburg, RJT, Wortmann, S, Prokisch, H & Schuelke, M 2020, 'Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 106, no. 1, pp. 102-111. https://doi.org/10.1016/j.ajhg.2019.12.005

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. / Gusic, Mirjana; Schottmann, Gudrun; Feichtinger, René (Co-author) et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 106, No. 1, 2020, p. 102-111.

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

TY - JOUR

T1 - Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

AU - Gusic, Mirjana

AU - Schottmann, Gudrun

AU - Feichtinger, René

AU - Du, Chen

AU - Scholz, Caroline

AU - Wagner, Matias

AU - Mayr, Johannes A.

AU - Lee, Chae-Young

AU - Yépez, Vicente A

AU - Lorenz, Norbert

AU - Morales-Gonzalez, Susanne

AU - Panneman, Daan M

AU - Rötig, Agnès

AU - Rodenburg, Richard J T

AU - Wortmann, Saskia

AU - Prokisch, Holger

AU - Schuelke, Markus

N1 - Feichtinger; Mayr; Wortmann: University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria

PY - 2020

Y1 - 2020

KW - IRON-SULFUR PROTEIN

KW - RESPIRATORY-CHAIN

KW - CYTOCHROME-B

KW - BC(1) COMPLEX

KW - HOMOZYGOUS MUTATION

KW - GENE

KW - MANIFESTATIONS

KW - ENCEPHALOPATHY

KW - ARCHITECTURE

KW - LYRM7/MZM1L

U2 - 10.1016/j.ajhg.2019.12.005

DO - 10.1016/j.ajhg.2019.12.005

M3 - Original Article

C2 - 31883641

SN - 0002-9297

VL - 106

SP - 102

EP - 111

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 1

ER -

Gusic M, Schottmann G, Feichtinger R, Du C, Scholz C, Wagner M et al. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. AMERICAN JOURNAL OF HUMAN GENETICS . 2020;106(1):102-111. doi: 10.1016/j.ajhg.2019.12.005