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Comment

. 2022 Dec 19;145(12):e125-e127.

doi: 10.1093/brain/awac344.

The phenotypic spectrum of COX20-associated mitochondrial disorder

Rui Ban^{1

2}, Robert Kopajtich^{2

3}, Junlan Lv¹, Sarah L Stenton^{2

3}, Masaru Shimura^{2

4}, Zhaoxia Wang⁵, Yun Yuan⁵, Junling Wang¹, Xiaodi Han¹, Zhimei Liu¹, Qiang Shi⁶, Chuanqiang Pu⁶, Holger Prokisch^{1

2

3}, Fang Fang¹, Matthias Elstner⁷

Affiliations

Affiliations

¹ Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.
² Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 85764, Germany.
³ Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich 81675, Germany.
⁴ Department of Metabolism, Chiba Children's Hospital, 260-0842 Chiba, Japan.
⁵ Department of Neurology, Peking University First Hospital, 100191 Beijing, China.
⁶ Department of Neurology, Chinese PLA General Hospital, 100853 Beijing, China.
⁷ Department of Neurology, School of Medicine, Technical University of Munich, Munich 81675, Germany.

PMID: 36136859
DOI: 10.1093/brain/awac344

Comment

The phenotypic spectrum of COX20-associated mitochondrial disorder

Rui Ban et al. Brain. 2022.

. 2022 Dec 19;145(12):e125-e127.

doi: 10.1093/brain/awac344.

Authors

Rui Ban^{1

2}, Robert Kopajtich^{2

3}, Junlan Lv¹, Sarah L Stenton^{2

3}, Masaru Shimura^{2

4}, Zhaoxia Wang⁵, Yun Yuan⁵, Junling Wang¹, Xiaodi Han¹, Zhimei Liu¹, Qiang Shi⁶, Chuanqiang Pu⁶, Holger Prokisch^{1

2

3}, Fang Fang¹, Matthias Elstner⁷

Affiliations

¹ Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.
² Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 85764, Germany.
³ Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich 81675, Germany.
⁴ Department of Metabolism, Chiba Children's Hospital, 260-0842 Chiba, Japan.
⁵ Department of Neurology, Peking University First Hospital, 100191 Beijing, China.
⁶ Department of Neurology, Chinese PLA General Hospital, 100853 Beijing, China.
⁷ Department of Neurology, School of Medicine, Technical University of Munich, Munich 81675, Germany.

PMID: 36136859
DOI: 10.1093/brain/awac344

No abstract available

PubMed Disclaimer

Comment on

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY. Dong HL, et al. Brain. 2021 Sep 4;144(8):2457-2470. doi: 10.1093/brain/awab135. Brain. 2021. PMID: 33751098

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