COQ7基因中的一个奠基者突变，即p.(Leu111Pro)，在伊朗人群中导致了纯合型遗传性痉挛性截瘫（HSP）。 - Suppr

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超能文献

A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.

作者信息

Sadr Zahra, Zare-Abdollahi Davood, Rohani Mohammad, Alavi Afagh

机构信息

Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.

出版信息

Neurol Sci. 2023 Jul;44(7):2599-2602. doi: 10.1007/s10072-023-06707-x. Epub 2023 Mar 1.

DOI:10.1007/s10072-023-06707-x

PMID:36854932

Abstract

摘要

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.同源 COQ7 突变：一种潜在可治疗的遗传性远端运动神经病的新病因。

Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453.

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.双等位基因 COQ4 变异导致成人发病的共济失调-痉挛谱系疾病。

Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1.

Clinical spectrum in multiple families with primary COQ deficiency.多家族原发性 COQ 缺陷的临床谱。

Am J Med Genet A. 2021 Feb;185(2):440-452. doi: 10.1002/ajmg.a.61983. Epub 2020 Nov 20.

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JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May.

Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.辅酶Q缺乏症中6-去甲氧基泛醌的检测：对酶相互作用的见解及潜在治疗方法的鉴定

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