一例罕见的孤立性IBM - hnrnpa2b1伴包涵体肌病

F. I. Isaev, E. Antipenko, M. N. Erokhina, E. Parshina, T. Kozlova
{"title":"一例罕见的孤立性IBM - hnrnpa2b1伴包涵体肌病","authors":"F. I. Isaev, E. Antipenko, M. N. Erokhina, E. Parshina, T. Kozlova","doi":"10.30629/0023-2149-2023-101-4-5-247-251","DOIUrl":null,"url":null,"abstract":"Hereditary inclusion body myopathy (IBM) is a variant of multisystem proteinopathy. It is a generalized progressive disease with autosomal recessive or autosomal dominant inheritance, characterized by the development of a degenerative process in muscle fi bers due to the accumulation of rimmed vacuoles and nuclear intermediate fi laments. This article presents a clinical observation of a rare variant of IBM — HNRNPA2B1-associated myopathy with a phenotypically diverse picture in representatives of one family from diff erent generations.","PeriodicalId":10439,"journal":{"name":"Clinical Medicine (Russian Journal)","volume":"4 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A rare case of isolated IBM — HNRNPA2B1associated myopathy with inclusion bodies\",\"authors\":\"F. I. Isaev, E. Antipenko, M. N. Erokhina, E. Parshina, T. Kozlova\",\"doi\":\"10.30629/0023-2149-2023-101-4-5-247-251\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hereditary inclusion body myopathy (IBM) is a variant of multisystem proteinopathy. It is a generalized progressive disease with autosomal recessive or autosomal dominant inheritance, characterized by the development of a degenerative process in muscle fi bers due to the accumulation of rimmed vacuoles and nuclear intermediate fi laments. This article presents a clinical observation of a rare variant of IBM — HNRNPA2B1-associated myopathy with a phenotypically diverse picture in representatives of one family from diff erent generations.\",\"PeriodicalId\":10439,\"journal\":{\"name\":\"Clinical Medicine (Russian Journal)\",\"volume\":\"4 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine (Russian Journal)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30629/0023-2149-2023-101-4-5-247-251\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine (Russian Journal)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30629/0023-2149-2023-101-4-5-247-251","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

遗传性包涵体肌病(IBM)是多系统蛋白病的一种变体。它是一种常染色体隐性遗传或常染色体显性遗传的全身性进行性疾病,其特征是由于边缘空泡和核中间纤维的积累而导致肌肉纤维发生退行性过程。本文介绍了一种罕见的IBM - hnrnpa2b1相关肌病变体的临床观察,该变体在一个家族不同代的代表中具有表型多样化的图景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare case of isolated IBM — HNRNPA2B1associated myopathy with inclusion bodies
Hereditary inclusion body myopathy (IBM) is a variant of multisystem proteinopathy. It is a generalized progressive disease with autosomal recessive or autosomal dominant inheritance, characterized by the development of a degenerative process in muscle fi bers due to the accumulation of rimmed vacuoles and nuclear intermediate fi laments. This article presents a clinical observation of a rare variant of IBM — HNRNPA2B1-associated myopathy with a phenotypically diverse picture in representatives of one family from diff erent generations.
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
自引率
0.00%
发文量
0
×
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