Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum

Xin-Yun Zhang^{1

2

3}, Hai-Lin Dong^{1

2

3}, Zhi-Ying Wu^{1

2

3

4}

Affiliations

¹ Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
² Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou 311121, China.
³ Department of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou 310009, China.
⁴ NHC and CAMS Key Laboratory of Medical Neurobiology, MOE Frontier Science Center for Brain Science and Brain-machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou 310012, China.

Comment

Xin-Yun Zhang et al. Brain. 2023.

. 2023 Dec 1;146(12):e117-e119.

doi: 10.1093/brain/awad212.

Xin-Yun Zhang^{1

2

3}, Hai-Lin Dong^{1

2

3}, Zhi-Ying Wu^{1

2

3

4}

¹ Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
² Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou 311121, China.
³ Department of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou 310009, China.
⁴ NHC and CAMS Key Laboratory of Medical Neurobiology, MOE Frontier Science Center for Brain Science and Brain-machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou 310012, China.

No abstract available

Comment on

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L. Jacquier A, et al. Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453. Brain. 2023. PMID: 36454683 Free PMC article.