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Comment on "A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome".关于“一名不完全HARP综合征患者中PANK2基因的新等位基因变异”的评论
J Mov Disord. 2021 Sep;14(3):254-255. doi: 10.14802/jmd.20145. Epub 2021 Apr 6.

本文引用的文献

1
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.采用医学外显子组测序鉴定神经发育障碍病因：2 个临床单位 216 例患者的经验。
Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.
2
A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.一种新的PANK2基因突变：患者的临床和分子特征 简短通讯
J Child Neurol. 2007 Nov;22(11):1256-9. doi: 10.1177/0883073807307092.
3
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.复合杂合性PANK2突变证实哈普综合征和苍白球黑质色素变性综合征具有等位基因关系。
Neurology. 2003 Nov 25;61(10):1423-6. doi: 10.1212/01.wnl.0000094120.09977.92.
4
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.HARP综合征与泛酸激酶相关神经变性等位基因相同。
Neurology. 2002 Jun 11;58(11):1673-4. doi: 10.1212/wnl.58.11.1673.
5
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities.棘红细胞增多症、色素性视网膜炎、苍白球变性。两例无血脂异常的病例报告。
J Neurol Sci. 1996 Sep 1;140(1-2):129-31. doi: 10.1016/0022-510x(96)00155-4.
6
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).棘红细胞增多症、色素性视网膜炎和苍白球变性：三例报告，包括第二例报告的伴有低前β脂蛋白血症的病例（HARP综合征）。
Neurology. 1995 Mar;45(3 Pt 1):487-92. doi: 10.1212/wnl.45.3.487.
7
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome).低前β脂蛋白血症、棘红细胞增多症、色素性视网膜炎和苍白球变性（HARP综合征）。
Neurology. 1992 Jan;42(1):194-8. doi: 10.1212/wnl.42.1.194.

A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome.

作者信息

Ley Martos Myriam, Salado Reyes María Jesús, Marín Iglesias Rosario, Gutiérrez Moro Carmen, Lubián Gutiérrez Manuel, Estepa Pedregosa Lorena

机构信息

Department of Neuropediatrics, Puerta del Mar Hospital, Cádiz, Spain.

Department of Genetics, Puerta del Mar Hospital, Cádiz, Spain.

出版信息

J Mov Disord. 2020 Sep;13(3):229-231. doi: 10.14802/jmd.19071. Epub 2020 Jul 14.

DOI:10.14802/jmd.19071
PMID:32654475
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7502299/
Abstract
摘要