• 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

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy.

作者信息

Vallat J M, de Lumley L, Loubet A, Leboutet M J, Corvisier N, Umdenstock R

出版信息

Acta Neuropathol. 1982;58(3):229-32. doi: 10.1007/BF00690806.

DOI:10.1007/BF00690806
PMID:7158301
Abstract

The authors report on the ultrastructural study of a muscle biopsy carried out in a child 6 years after the first biopsy which had led to diagnosis of "multicore disease". Clinical evolution following a few years of muscular involvement had been favorable. The lesions observed in the second biopsy were again characterized by the presence of multicores, but in addition to cores and rods. All of these abnormalities could sometimes be noted in a single muscle fiber. Although rare cases of an association of two types of lesions have been reported, no study has hitherto shown multicores, cores, and rods in the same biopsy. This observation might confirm the possibility of common pathogenic mechanisms producing these lesions.

摘要

相似文献

1
Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy.
Acta Neuropathol. 1982;58(3):229-32. doi: 10.1007/BF00690806.
2
Multicore myopathy--a case report.多核肌病——一例报告
J Korean Med Sci. 1993 Aug;8(4):312-7. doi: 10.3346/jkms.1993.8.4.312.
3
Central core disease--a case report.中央轴空病——一例报告
J Korean Med Sci. 1993 Jun;8(3):235-40. doi: 10.3346/jkms.1993.8.3.235.
4
Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.伴有横纹局部缺失和眼肌麻痹的家族性多核病。
J Neurol Sci. 1981 Oct;52(1):1-10. doi: 10.1016/0022-510x(81)90129-5.
5
Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.成人起病的伴有杆状体、微小核心和中央核心的混合性肌病:一种酷似多发性肌炎的肌肉疾病。
J Neurol. 1984;231(3):103-8. doi: 10.1007/BF00313674.
6
[Multicore myopathy--a case of congenital non-progressive myopathy associated with "multicore" degeneration of muscle fibers].多核肌病——一例与肌纤维“多核”变性相关的先天性非进行性肌病
Rinsho Shinkeigaku. 1974 Jul 1;14(7):613-22.
7
Quantitative histopathology in congenital myopathies.先天性肌病的定量组织病理学
Riv Neurol. 1987 Jul-Aug;57(4):261-8.
8
Is central core disease with structural core a fetal defect?伴有结构核心的中央轴空病是一种胎儿缺陷吗?
J Neurol. 1984;231(4):212-9. doi: 10.1007/BF00313941.
9
Fatal neonatal nemaline myopathy.致死性新生儿杆状体肌病
Acta Pathol Jpn. 1982 Sep;32(5):907-16. doi: 10.1111/j.1440-1827.1982.tb03205.x.
10
Unusual paraspinal muscle lesions in ankylosing spondylitis.强直性脊柱炎中不寻常的椎旁肌病变
Clin Exp Neurol. 1987;23:23-9.

引用本文的文献

1
Novel Variants in Individuals with -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.与先天性肌病相关个体中的新型变异:遗传学、实验室及临床发现
Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.
2
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.先天性肌病:兴奋-收缩耦联和肌肉收缩障碍。
Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2.
3
Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

本文引用的文献

1
[Clinical and ultrastructural study of a case of congenital myopathy with multiple foci].[一例具有多个病灶的先天性肌病的临床及超微结构研究]
Ann Pediatr (Paris). 1976 Nov 2;23(11):733-6.
2
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY.先天性非进行性肌病。一个家族中的中央轴空病和杆状体肌病
Neurology. 1965 Apr;15:371-81. doi: 10.1212/wnl.15.4.371.
3
Adult-onset nemaline rods in a patient treated for suspected dermatomyositis. Study with two-dimensional electrophoresis.一名疑似皮肌炎患者的成人起病性杆状体肌病。二维电泳研究。
中央核、核心和杆状体并存:诊断相关性。
Ann Indian Acad Neurol. 2016 Apr-Jun;19(2):201-4. doi: 10.4103/0972-2327.176861.
4
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.Ryr1(I4895T/wt) 小鼠中的 Ca2+ 失调导致先天性肌病,伴有进行性形成小核心、核心和杆状体。
Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21813-8. doi: 10.1073/pnas.0912126106. Epub 2009 Dec 3.
5
Multi-minicore Disease.多微核疾病
Orphanet J Rare Dis. 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31.
6
Central core disease.中央轴空病
Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25.
7
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.在永生化淋巴细胞中表达的、携带在多微小核心病和中央核心病患者中鉴定出的三个氨基酸替代的兰尼碱受体的功能特性。
Biochem J. 2006 Apr 15;395(2):259-66. doi: 10.1042/BJ20051282.
8
Congenital myopathies.先天性肌病
Curr Neurol Neurosci Rep. 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7.
9
Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.成人起病的伴有杆状体、微小核心和中央核心的混合性肌病:一种酷似多发性肌炎的肌肉疾病。
J Neurol. 1984;231(3):103-8. doi: 10.1007/BF00313674.
10
Pleocore disease. Multi-minicore disease and focal loss of cross striations.
Acta Neuropathol. 1986;72(2):142-9. doi: 10.1007/BF00685976.
Arch Neurol. 1981 Dec;38(12):761-6. doi: 10.1001/archneur.1981.00510120061010.
4
A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores.一种致命的先天性肌病,伴有严重的I型纤维萎缩、中央核和多核。
J Neurol Sci. 1981 May;50(2):277-90. doi: 10.1016/0022-510x(81)90173-8.
5
Cytopathology of an unusual case of centronuclear myopathy. Light- and electron-microscopic investigations.中央核性肌病一例罕见病例的细胞病理学。光镜和电镜研究。
J Neurol Sci. 1981 Jun;50(3):311-33. doi: 10.1016/0022-510x(81)90146-5.
6
Mixed nemaline-mitochondrial "myopathy".混合性杆状体-线粒体“肌病”
Acta Neuropathol. 1980;51(3):185-9. doi: 10.1007/BF00687385.
7
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.多核病。一种最近被认识到的先天性肌病,与肌纤维的多灶性变性相关。
Mayo Clin Proc. 1971 Oct;46(10):666-81.
8
A new concept of childhood nemaline myopathy.儿童杆状体肌病的新概念。
Arch Neurol. 1971 Apr;24(4):291-304. doi: 10.1001/archneur.1971.00480340023002.
9
Tenotomy. Effect on the fine structure of the soleus of the rat.跟腱切断术。对大鼠比目鱼肌精细结构的影响。
Arch Neurol. 1969 Jun;20(6):625-33. doi: 10.1001/archneur.1969.00480120071006.
10
Common origin of rods, cores, miniature cores, and focal loss of cross-striations.杆状体、核心、微型核心的共同起源以及横纹的局灶性缺失。
Arch Neurol. 1978 Sep;35(9):555-66. doi: 10.1001/archneur.1978.00500330003002.