• 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

Genetic aspects in myasthenia gravis. A family study of 264 Finnish patients.

作者信息

Pirskanen R

出版信息

Acta Neurol Scand. 1977 Nov;56(5):365-88.

PMID:596124
Abstract

The prevalence of myasthenia gravis (MG) in Finland was 264 patients per 4.7 mil. inhabitants or 0.006 per cent. Of these 264 patients 19 (17 females and 2 males) were familial cases from eight families. MG occurred in 11 siblings, in two mothers and their child, and in six cousins. MG was not found in three or more successive generations. The familial MG resembled the non-familial disease. No concordance of MG among five sets of twins was found. The birth localities of gradparents seemed to have a slight tendency for accumulation, but no definite clusters were formed. Consanguinity between parents was found in seven of 192 families. An increased frequency of collagen or thyroid diseases was found both in patients and parents, but they were not specially accumulated to the relatives of familial myasthenics. Neither autosomal nor sex-linked, dominant or recessive, nor some other uniform mode of inheritance in MG could be confirmed. Some genetical predisposition to MG seems to exist, but it may be common to autoimmunity as a whole.

摘要

相似文献

1
Genetic aspects in myasthenia gravis. A family study of 264 Finnish patients.
Acta Neurol Scand. 1977 Nov;56(5):365-88.
2
[Familial myasthenia gravis: report of 2 brothers].[家族性重症肌无力:两兄弟的病例报告]
Arq Neuropsiquiatr. 1985 Mar;43(1):80-5.
3
[Ocular myasthenia in sisters (author's transl)].姐妹俩患眼肌型重症肌无力(作者译)
Klin Monbl Augenheilkd. 1982 Apr;180(4):294-6. doi: 10.1055/s-2008-1055070.
4
Myasthenia gravis: familial occurrence. A study of 1100 myasthenia gravis patients.重症肌无力:家族性发病。对1100例重症肌无力患者的研究。
Acta Med Hung. 1989;46(1):13-21.
5
Familial myasthenia gravis: a study of three families.家族性重症肌无力:对三个家族的研究
Clin Exp Neurol. 1985;21:141-8.
6
Prophylactic Oophorectomy: Reducing the U.S. Death Rate from Epithelial Ovarian Cancer. A Continuing Debate.预防性卵巢切除术:降低美国上皮性卵巢癌死亡率。一场持续的争论。
Oncologist. 1996;1(5):326-330.
7
Myasthenia gravis occurring in twins.双胞胎患重症肌无力。
J Neurol Neurosurg Psychiatry. 1971 Oct;34(5):531-4. doi: 10.1136/jnnp.34.5.531.
8
Genetic Blood Disorders Survey in the Sultanate of Oman.阿曼苏丹国的遗传性血液疾病调查。
J Trop Pediatr. 2003 Jul;49 Suppl 1:i1-20.
9
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.家族性先天性膈缺陷:病因、产前诊断及治疗方面
Am J Med Genet. 1984 Feb;17(2):471-83. doi: 10.1002/ajmg.1320170210.
10
Epidermolysis bullosa in Finland. Clinical features, morphology and relation to collagen metabolism.芬兰的大疱性表皮松解症。临床特征、形态学及与胶原代谢的关系。
Acta Derm Venereol Suppl (Stockh). 1984;110:1-51.

引用本文的文献

1
Familial myasthenia gravis: characterization of an Israeli cohort and systematic review of the literature.家族性重症肌无力:以色列队列的特征及文献系统综述
J Neurol. 2025 Jul 10;272(8):498. doi: 10.1007/s00415-025-13236-4.
2
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.全面基因组关联分析揭示重症肌无力新发病位,并为多基因预测提供新见解。
Nat Commun. 2024 Nov 13;15(1):9839. doi: 10.1038/s41467-024-53595-6.
3
FcRN receptor antagonists in the management of myasthenia gravis.
FcRN受体拮抗剂在重症肌无力治疗中的应用
Front Neurol. 2023 Aug 4;14:1229112. doi: 10.3389/fneur.2023.1229112. eCollection 2023.
4
Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do.芬兰的成人发病神经流行病学:可汲取的经验教训与待开展的工作
J Clin Med. 2023 Jun 11;12(12):3972. doi: 10.3390/jcm12123972.
5
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.遗传性因素对重症肌无力的影响的流行病学证据:来自北美的回顾性队列研究。
BMJ Open. 2020 Sep 18;10(9):e037909. doi: 10.1136/bmjopen-2020-037909.
6
Whole-exome sequencing reveals a rare interferon gamma receptor 1 mutation associated with myasthenia gravis.全外显子组测序揭示了一种与重症肌无力相关的罕见干扰素γ受体 1 突变。
Neurol Sci. 2018 Apr;39(4):717-724. doi: 10.1007/s10072-018-3275-8. Epub 2018 Feb 13.
7
Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset.挪威青少年重症肌无力:HLA-DRB1*04:04与青春期前发病呈正相关。
PLoS One. 2017 Oct 16;12(10):e0186383. doi: 10.1371/journal.pone.0186383. eCollection 2017.
8
A genome-wide association study of myasthenia gravis.重症肌无力的全基因组关联研究。
JAMA Neurol. 2015 Apr;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103.
9
Genetics of myasthenia gravis: a case-control association study in the Hellenic population.重症肌无力的遗传学:希腊人群中的病例对照关联研究。
Clin Dev Immunol. 2012;2012:484919. doi: 10.1155/2012/484919. Epub 2012 Sep 25.
10
Concomitant autoimmunity in myasthenia gravis--lack of association with IgA deficiency.重症肌无力中的伴随自身免疫——与 IgA 缺乏无关。
J Neuroimmunol. 2011 Jul;236(1-2):118-22. doi: 10.1016/j.jneuroim.2011.05.008. Epub 2011 Jun 12.