脊髓性肌萎缩伴重度脊柱侧凸1例

IF 0.2 Q4 PEDIATRICS
Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie
{"title":"脊髓性肌萎缩伴重度脊柱侧凸1例","authors":"Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie","doi":"10.14238/pi63.4.2023.315-20","DOIUrl":null,"url":null,"abstract":"Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement.  This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1","PeriodicalId":19660,"journal":{"name":"Paediatrica Indonesiana","volume":"129 1","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Spinal muscular atrophy with severe scoliosis: a case report\",\"authors\":\"Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie\",\"doi\":\"10.14238/pi63.4.2023.315-20\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement.  This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1\",\"PeriodicalId\":19660,\"journal\":{\"name\":\"Paediatrica Indonesiana\",\"volume\":\"129 1\",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2023-08-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Paediatrica Indonesiana\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14238/pi63.4.2023.315-20\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatrica Indonesiana","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14238/pi63.4.2023.315-20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

摘要

脊髓性肌萎缩症(SMA)是一种常染色体隐性神经退行性疾病,可导致全身无力、肌肉萎缩和肌肉运动不良。这种情况是由于存活运动神经元(SMN) 1存活基因的纯合性破坏,原因是缺失、转换或突变
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spinal muscular atrophy with severe scoliosis: a case report
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement.  This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
0.40
自引率
0.00%
发文量
58
审稿时长
24 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信