• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.

作者信息

Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Krishnanada Vikas, Sathyakumar Rima, Mahadevan Anita

机构信息

Department of Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Department of Medical Genetics, Postgraduate Institute of Child Health, Noida, Uttar Pradesh, India.

出版信息

Ann Indian Acad Neurol. 2025 May 1;28(3):480-482. doi: 10.4103/aian.aian_999_24. Epub 2025 Apr 2.

DOI:10.4103/aian.aian_999_24
PMID:40172253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12192398/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/c9299557ca7f/AIAN-28-480-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/b4c24d4184ec/AIAN-28-480-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/cbe94c168de9/AIAN-28-480-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/c9299557ca7f/AIAN-28-480-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/b4c24d4184ec/AIAN-28-480-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/cbe94c168de9/AIAN-28-480-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/821c/12192398/c9299557ca7f/AIAN-28-480-g003.jpg

相似文献

1
Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.导致大肌管型先天性肌营养不良的新型CHKB突变：来自印度的一例报告
Ann Indian Acad Neurol. 2025 May 1;28(3):480-482. doi: 10.4103/aian.aian_999_24. Epub 2025 Apr 2.
2
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.巨轴先天性肌营养不良症：两个无血缘关系的中国患者的 CHKB 基因中存在相同的新型纯合突变。
Neuromuscul Disord. 2020 Jan;30(1):47-53. doi: 10.1016/j.nmd.2019.10.009. Epub 2019 Nov 5.
3
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.巨轴索先天性肌营养不良症与新型 CHKB 变异相关：病例报告与文献复习。
Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8.
4
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.CHKB 基因突变致巨大先天性肌营养不良症 13 例伊朗患者的首报
Neuromuscul Disord. 2023 Jul;33(7):589-595. doi: 10.1016/j.nmd.2023.06.006. Epub 2023 Jun 19.
5
-Related Muscular Dystrophy相关性肌肉萎缩症
6
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.近端肌病伴线粒体灶性缺失和巨大线粒体先天性肌营养不良是由CHKB基因突变引起的等位基因疾病。
Neuromuscul Disord. 2016 Feb;26(2):160-4. doi: 10.1016/j.nmd.2015.11.002. Epub 2015 Dec 4.
7
Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.由于CHKB基因突变导致的巨大线粒体肌病中的先天性神经源性肌肉萎缩。
Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008. Epub 2015 May 23.
8
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.外显子组测序在一名患有大嵴帽先天性肌营养不良和线粒体DNA耗竭的西班牙患者中鉴定出一个CHKB突变。
Eur J Paediatr Neurol. 2014 Nov;18(6):796-800. doi: 10.1016/j.ejpn.2014.06.005. Epub 2014 Jun 20.
9
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.新型CHKB突变扩展了大肌管性肌营养不良的表型。
Muscle Nerve. 2015 Jan;51(1):140-3. doi: 10.1002/mus.24446. Epub 2014 Nov 22.
10
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.巨轴索先天性肌营养不良症由于胆碱激酶 β 的功能丧失突变。
Curr Opin Neurol. 2013 Oct;26(5):536-43. doi: 10.1097/WCO.0b013e328364c82d.

本文引用的文献

1
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.大型杂合性缺失和单亲二体性伪装为 CHKB 基因的纯合性。
Mol Genet Genomic Med. 2023 Jul;11(7):e2162. doi: 10.1002/mgg3.2162. Epub 2023 Mar 10.
2
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.巨轴索先天性肌营养不良症与新型 CHKB 变异相关：病例报告与文献复习。
Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8.
3
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy.
巨轴索先天性肌营养不良症患者原代骨骼肌细胞中线粒体分裂减少和能量代谢受损。
Sci Rep. 2021 Sep 13;11(1):18161. doi: 10.1038/s41598-021-97294-4.
4
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.巨轴索先天性肌营养不良症继发于新型 CHKB 突变，类似于非典型雷特综合征。
J Hum Genet. 2021 Aug;66(8):813-823. doi: 10.1038/s10038-021-00913-1. Epub 2021 Mar 12.
5
Genetic diseases of the Kennedy pathways for membrane synthesis.肯尼迪通路的膜合成相关遗传疾病。
J Biol Chem. 2020 Dec 18;295(51):17877-17886. doi: 10.1074/jbc.REV120.013529.
6
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.巨轴先天性肌营养不良症：两个无血缘关系的中国患者的 CHKB 基因中存在相同的新型纯合突变。
Neuromuscul Disord. 2020 Jan;30(1):47-53. doi: 10.1016/j.nmd.2019.10.009. Epub 2019 Nov 5.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.巨轴索先天性肌营养不良症由于胆碱激酶 β 的功能丧失突变。
Curr Opin Neurol. 2013 Oct;26(5):536-43. doi: 10.1097/WCO.0b013e328364c82d.
9
A new congenital muscular dystrophy with mitochondrial structural abnormalities.一种伴有线粒体结构异常的新型先天性肌营养不良症。
Muscle Nerve. 1998 Jan;21(1):40-7. doi: 10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g.