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Novel mutation in a Japanese family with adult polyglucosan body disease.

作者信息

Harigaya Yasuo, Matsukawa Takashi, Fujita Yukio, Mizushima Kazuyuki, Ishiura Hiroyuki, Mitsui Jun, Morishita Shinichi, Shoji Mikio, Ikeda Yoshio, Tsuji Shoji

机构信息

Department of Neurology (Y.H., K.M.), Maebashi Red Cross Hospital; Department of Neurology (T.M., H.I., J.M., S.T.), Graduate School of Medicine, Tokyo University; Department of Neurology (Y.F., Y.I.), Gunma University Graduate School of Medicine, Maebashi; Department of Computational Biology and Medical Sciences (S.M.), Graduate School of Frontier Sciences, Tokyo University, Chiba; and Department of Neurology (M.S.), Hirosaki University Graduate School of Medicine, Japan.

出版信息

Neurol Genet. 2017 Feb 24;3(2):e138. doi: 10.1212/NXG.0000000000000138. eCollection 2017 Apr.

DOI:10.1212/NXG.0000000000000138
PMID:28265589
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5327677/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce2d/5327677/eb2257e56cf1/NG2016004226FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce2d/5327677/eb2257e56cf1/NG2016004226FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce2d/5327677/eb2257e56cf1/NG2016004226FF1.jpg

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The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.成人多聚糖体病突变 GBE1 c.1076A>C 在阿什肯纳兹犹太背景的人群中高频发生。
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本文引用的文献

1
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.表现为单侧进行性臂丛神经病的成人多聚葡萄糖体病
Muscle Nerve. 2016 Jun;53(6):976-81. doi: 10.1002/mus.25041. Epub 2016 Apr 25.
2
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.成人多聚葡萄糖体病：一个意大利大家族的临床和组织学异质性
Neuromuscul Disord. 2015 May;25(5):423-8. doi: 10.1016/j.nmd.2015.01.015. Epub 2015 Feb 7.
3
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
成人多聚糖体病——一种具有新型 GBE1 突变的非典型复合杂合子。
Neurol Sci. 2021 Jul;42(7):2955-2959. doi: 10.1007/s10072-021-05096-3. Epub 2021 Jan 31.
4
Update on polyglucosan storage diseases.多黏糊精贮积症的最新进展。
Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30.
表现型杂合子成年型多聚体谷氨酰胺体病患者中 GBE1 基因的深内含子突变。
JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496.
4
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.人类基因突变数据库：为临床和分子遗传学、诊断测试以及个性化基因组医学构建全面的基因突变知识库。
Hum Genet. 2014 Jan;133(1):1-9. doi: 10.1007/s00439-013-1358-4.
5
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.成人多聚糖体病：自然病史和关键磁共振成像表现。
Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.
6
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.成人多葡聚糖体病中糖原分支酶基因的新型错义突变。
Ann Neurol. 2000 Apr;47(4):536-40.
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Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.携带糖原分支酶基因Tyr329Ser突变的阿什肯纳兹犹太患者中的成人多聚葡萄糖体病
Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604.